AUTHOR INDEX TO VOLUME 24

Note: All notices for conferences, symposia, and meetings are under one heading: ANNOUNCEMENTS (Subject Index)

AL-AWADI S A, NAGUIB K K, FARAG T I, and TEEBI A SHypoplastic tibiae with postaxial polysyn-dactyly: a new dominant syndrome?: casereport 369

see also FARAG T I et alNAGUIB K K et al

AL-GAZALI L I, DONNAI D, WILKINSON K, and MUELLERR F The oculocerebrocutaneous syndrome634 abst

AL-OTHMAN S A see FARAG T I et alAFFARA N A see GILLARD E F et al

GOUDIE D R et alTOLMIE J L et al

AITKEN D see D R et alAITKEN D A, GALT J, BATSTONE P. REBBECK T, BOYD E,

FERGUSON-SMITH M E, and YATES J R WClinical, cytogenetic, biochemical, andmolecular investigation of a case of mosaictetrasomy 12p 240 abst

see also GILLARD E F et alAKAR N, CAVDAR A 0, DESSI E, LoI A, PIRASTU M, and

CAO A 0 thalassaemia mutations in theTurkish population: short report 378

ALBERTS M J see PERICAK-VANCE M A et alALEXANDER F W see FISHER J A et alALLAN P L see WATSON M L et alALLANSON J E Noonan syndrome: syndrome of the

month 9AMIR Y see NAOR N et alANDREWS T see DONNAI D et al

READ A P et alAQUINO R see DONNENFELD A E et alARNASON A see JENSSON 0 et alATKINS L see KRAUSS C M et alAURIAS A see KAPLAN J-C et alAWADI S A AL- see AL-AWADI S AAYLSWORTH A S see DIEHL S R et al

PERICAK-VANCE M A et al

BADER J L see SEIZINGER B R et alBADRAMANY M H EL- see EL-BADRAMANY M HBAKKER E see VEENEMA H et alBALE S J see SPENCE M A et alBALLOT D see MEYER T E et alBAMFORTH S see PATTON M A et alBARAITSER M and PATTON M A The crartiocardioskeletal

syndrome and the Noonan-like short staturesyndrome are possibly the same entity:correspondence reply 511

see also GATTUSO J et alPATTON M A et alTHOMPSON E and BARAITSER M

THOMPSON E M et alWINTER R M and BARAITSER M

BARBER N see SAY B and BARBER NBARKER D, WRIGHT E, NGUYEN K, CANNON L, FAIN P,

GOLDGAR D, BISHOP D T, CAREY J, KiVLIN J,WILLARD H, NAKAMURA Y, O'CONNELL P,LEPPERT M, WHITE R, and SKOLNICK MA genomic search for linkage of neurofibro-matosis to RFLPs 536

BARNES I C S, CURTIS D J, and DUNCAN S L B Anisodicentric X chromosome with short armfusion in a woman without somatic featuresof Turner's syndrome: case report 428

BARNES P see MACDERMOT K D et alBARROS A, TAVARES M C, GOMES M P, and TAVARES M P

Pericentric inversion and sterility: corres-pondence 510

BARUCH R see DE MOOR M M A et alBATANIAN J and HULTEN M Loop formation without

proper synapsis in an inv(1)(p32--q42)infertile human male 641 abst

BATSTONE P see AITKEN D A et alTOLMIE J L et al

BAUER M see KiTTUR S et alBAYNES R D see MEYER T E et alBECK J S see FAED M J W et alBEIGHTON P The Berlin nomenclature for inherited

disorders of connective tissue 634 abstPyle disease (metaphyseal dysplasia): syndrome of the

month 321BELL L see WATr J L et alBELL M see PATTERSON M et alBENADE A J S see KOTZE M J et alBENDER K see WEINKER T F et alBENDER-GOTZE C H see WALTHER J-U and BENDER-

GOTZE CBENECK D see FRANCHINO C J et alBENNETT C P, BURN J, and MOORE G Prevalence of

hypertropic cardiomyopathy in the NorthernRegion 243 abst

BERG M TELENIUS- see TELENiUS-BERG MBERGHE H VAN DEN see VAN DEN BERGHE HBERGHE J A VAN DEN see VAN DEN BERGHE J ABERKOWITZ R L see TSIPOURAS P et alBERRY A C Rubinstein-Taybi syndrome: syndrome of the

month 562see also MATKINS S V et al

MUTTON D E et alBEVERSTOCK G C see VEENEMA H et alBIRCH J M see HARTLEY A L et alBIRD A R, ELLIS P, WOOD K, MATHEW C, and KARABUS C

Inherited haemoglobin variants in a SouthAfrican population 215

793

Author index

BISHOP D T see BARKER D et alBISSBORT S see WIENKER T F et alBITTLES A H see DEVI A R R et alBJORNSSON see JENSSON 0 et alBLACKWELL N see HOLT S et alBLANK C E see KUMAR D et alBOBROW M see COLE C G et al

HART K A et alHODGSON S et alHODGSON S V et alMURER-ORLANDO M et alMUTTON D E et alWALKER A et al

BOEHNKE M see DIEHL S R et alBOSE B see FAED M J W et alBOTHWELL T H see MEYER T E et alBOWDEN D K, HILL A V A, WEATHERALL D J, and CLEGG

J B High frequency of fi thalassaemia in asmall island population in Melanesia 357

BOYD E see AITKEN D A et alCOOKE A et alTOLMIE J L et al

BOYD E B see TOLMIE J L et alBOYD Y see BUCKLE V J et al

HOLT S et alBRANDL J and GRIMM T A chromosome supplement to the

London Dysmorphology Database: shortcommunication 497

BRIDGES D R see SCARBOROUGH P R et alBROCK D see BURN J et al

CURTIS A and BROCK DBROCK D J H Seventh International Congress of Human

Genetics. Satellite meeting: Alphafeto-protein in diagnosis and screening: con-

ference report 124BROWN J see MCKAY J et alBRUNT P W see MCKAY J et alBUCKLE V J, BOYD Y, FRASER N, GOODFELLOW P N,

GOODFELLOW.P J, WOLFE J, and CRAIG I WLocalisation of Y chromosome sequences innormal and 'XX' males 197

BUETOW K H see FERRELL R E et alBURN J The Second Manchester Birth Defects Conference,

1 to 3 October 1986: conference report 505BROCK D, CURTIS A, HOLLOWAY S, and NELSON R

Urgent use of DNA typing to avoid prenataldiagnosis in a family at risk of cystic fibrosis244 abst

see also BENNETT C P et alFISHER J A et alWINTER R M et al

CALDWELL D see KRAUSS C M et alCALLEN D F see SIMMERS R N et al

SUTHERLAND G R et alCAMPBELL J see TOLMIE J L et alCAMPBELL S see WINTER R M et alCANCER RESEARCH CAMPAIGN MEDULLARY THYROID

GROUP see PONDER B A J et alCANNON L see BARKER D et at

CANTU J M see CORONA J S AND CANTU J MRIVERA H et al

CAO A see AKAR N et alROSATELLI C et al

CAREY J see BARKER D et alCAREY J C see RICCARDI V M and CAREY J CCARPENTER N J, MAYES J S, SAY B, and WILSON D P

Partial deletion 21: case report with bio-chemical studies and review: case report 706

see also VEENEMA H et alCARR D M, JONES-QUARTEY K, VARTANIAN M V, and

MOORE-KAPLAN H Duplication 14(q31-*qter): case report 372

CARROLL A J see SCARBROUGH P R et alCARROLL C V see TOMKINS P T et alCARTER C see MATHEW C G P et alCASSIMAN J J see EVERS-KIEBOOMS G et alCATER J I see FAED M J W et alCATTANEO G see PONzIo G et alCAVDAR A 0 see AKAR N et alCHAKRAVARTI A see KIrrUR S et alCHALMERS A see FRYER A E et alCHAMBERS J see JENSSON 0 et alCHANDLEY A C 'Spontaneous and induced chromosome

aberrations in germ cells of mammals andman'. Seventh International Congress ofHuman Genetics, Berlin: conference report314

HARGREAVE T B, McBEATH S, MITCHELL A R, andSPEED R M Ring XY bivalent: a newphenomenon at metaphase I of meiosis inman 101

MCBEATH S, SPEED R M, YORSTON L, and HARGREAVET B Pericentric inversion in human chromo-some 1 and the risk for male sterility 325

CHAPELLE A DE LA see DE LA CHAPELLE ACHAPMAN C J see ROMAIN D R et alCHEN S-R see ZENG Y-T et alCHENG S V see WATKINS P C et alCHESHIRE J K see MACDERMOT K D et alCHESSELLS J M see VAN DEN BERGHE J A et alCHIANG R see THOMAS P K et alCHILD A see HODGSON S et alCHOWN K see MUTTON D E et alCLARK A see KUMAR D et alCLARKE A Hypohidrotic ectodermal dysplasia: syndrome

of the month 659CLARKE M see YOUNG I D and CLARKE MCLAYTON J F see WATSON M L et alCLEGG J B see BOWDEN D K et al

HILL A V S et alCLINICAL GENETICS SOCIETY Meeting held on 5 and 6

December 1986, London, abstracts 235Meeting held on 2 and 3 April 1987, Leicester, abstracts

634COFFEY R see PONDER B A J et alCOHEN T see NAOR N et alCOKE R CRUZ- see CRUZ-COKE RCOLE C see HODGSON S et alCOLE C G, HODGSON S V, WALKER A, DUBOWITZ V,

GRANATA C, MERLINI L, and BOBROW M

794

Author index

Further linkage analysis of Emery-Dreifussmuscular dystrophy 244 abst

see also HART K A et alHODGSON S V et alWALKER A et al

COLE W G, EVANS R, and SILLENCE D 0 The clinicalfeatures of Ehlers-Danlos syndrome type VIIdue to a deletion of 24 amino acids from theproal(I) chain of type I procollagen:case report 698

COLES G A see LAZAROU L P et alCOLGAN J M see CONNOR J M et al

YATES J R W et alCOLLINS F S see DIEHL S R et alCOLUMBANO-GREEN L M see ROMAIN D R et alCOMPSTON A see LUNT P W et alCONNACHER A A, FORSYTH C C, and STEWART W K

Orofaciodigital syndrome type I associatedwith polycystic kidneys and agenesis of thecorpus callosum: case report 116

CONNOR J M, OSMAN H, STEPHANIE L, NEVIN N C, andHOFKER M Linkage analysis in families withfragile X syndrome using cX55-7 (DXS105)635 abst

PIRRIT L A, YATES J R W, CROSSLEY J A, IMRIE S J, andCOLGAN J M Linkage analysis using multipleXq DNA polymorphisms in normal families,families with the fragile X syndrome, andother families with X linked conditions 14

FRYER A E, and FERGUSON-SMITH M A Linkage ofthe tuberous sclerosis locus to a DNA poly-morphism detected by v-abl 544

see also LANYON W G et alSHIACH C et alTOLMIE J L et al

CONTI L see MATrINA T et alCOOK A see MACDERMOT K D et alCOOKE A, ToLmrE J, DARLINGTON W, BOYD E, THOMSON R,

and FERGUSON-SMITH M A Confirmation ofa suspected 16q deletion in a dysmorphicchild by flow karyotype analysis 88

see also GILLARD E F et alYATES J R W et al

COOKE R W I see MODI N and COOKE R W ICORNEY G see WATSON M L et alCORONA J S and CANTU J M The craniocardioskeletal

syndrome and the Noonan-like short staturesyndrome are possibly the same entity:correspondence 510

CORTESSIS V see SPENCE M A et alCouTTs N see TOLMIE J L et alCOUZIN D A, WATr J L, and STEPHEN G S Structural

rearrangements in the parents of childrenwith primary trisomy 21 280

COWIE V A see ROBERTS S H et alWHEATER R F et al

Cox D W and MANSFIELD T Prenatal diagnosis of a,antitrypsin deficiency and estimates of fetalrisk for disease 52

CRAIG I W see BUCKLE V J et alHOLT S et al

CRAWFORD F C and SOFAER J A Cleft lip with or withoutcleft palate: identification of sporadic caseswith a high level of genetic predisposition163

CRAWFORD M D'A see MACDERMOT K D et alCRESSWELL M A see KUMAR D et alCROSSLEY J A see CONNOR J M et alCRUZ-COKE R Translocation chromosome map of onco-

genes: short communication 111CStCSEI K see VARADI V et alCUNLIFFE V and TROWSDALE J The molecular genetics of

human chromosome 6: gene mapping andmedical genetics 649

CUNNINGHAM P see WATr J L et alCURTIS A and BROCK D Confirmation of diagnosis of cystic

fibrosis in second trimester abortuses by useof RFLP analysis 239 abst

see also BURN J et alCURTIS D J see BARNES I C S et alCURTO F L see ZUFFARDI 0 et al

DABBOUS I see DER KALOUSTIAN V M et alDALE R F Primary lymphoedema when found with

distichiasis is of the type defined as bilateralhyperplasia by lymphography 170

DALGLEISH R, DUCKETr D P, SHANNON R S, and YOUNG I D'Monosomy 21' due to ring chromosome 21:a mildly affected patient 639 abst

HAWKINS J R and KESTON M Exclusion of the a 2(I)and a 1(III) collagen genes as the mutantloci in a Marfan syndrome family 148

see also KESTON M and DALGLEISH RDALLAPICCOLA B see PORFIRIo B et alDANESINO C see PONzIo G et alDARBY J K see FERRELL R E et alDARLINGTON W see COOKE A et alDAVIDSON S see NAOR N et alDAVIES F see LAZAROU L P et alDAVIES K E see PATTERSON M et al

READ A P et alTHAKKER R V et al

DAVIES M see READ A P et alTHAKKER R V et al

DAWSON J see MCKEOWN C et alDE LA CHAPELLE A see KESKIAHO L et alDE MOOR M M A, BARUCH R, and HUMAN D G

Frontonasal dysplasia associated withtetralogy of Fallot 107

DEAR P R F see WILLIAMS J and DEAR P R FDELHANTY J D A Seventh International Congress of

Human Genetics, Berlin. Satellite meeting:Cytogenetics and molecular genetics ofhuman neoplasia: conference report 188

DEMPSTER M see WATSON M L et alDEN BERGHE J A VAN see VAN DEN BERGHE J ADEN BERGHE H VAN see VAN DEN BERGHE HDENNIS N R Report on conference on new prospects in

genetic diseases: conference report 643DER KALOUSTIAN V M, KHUDR A, FIRZLI S, and DABBOUS I

Psychosocial and economic profile of asample of families with thalassaemic childrenin Lebanon 772

795

796 Author index

DERMAN D P see MEYER T E et alDESSI E see AKAR N et alDEVI A R R, RAo N A, and BITTLES A H Inbreeding and

the incidence of childhood genetic disordersin Karnataka, South India 362

Di Tucci A see ROSATELLI C et alDICKINSON V see HOWELL R T et alDIEHL S R, BOEHNKE M, COLLINS F S, ERICKSON R P,

KAROLYI I J, PLOUGHMAN L M, PERICAK-VANCEM A, AYLSWORTH A S, and ROSES A DLinkage analysis of peripheral neurofibro-matosis to DNA markers on chromosome8 532

DINWIDDIE R see THOMPSON E M et alDODGE A see MCKEOWN C et alDOLATA M M see RYYNANEN M et alDON N see YiP M-Y et alDONNAI D, HUGHES H E, and WINTER R M Postaxial

acrofacial dysostosis (Miller) syndrome:syndrome of the month 422

KERZIN-STORRAR L, and HARRIS R Familial orofacio-digital syndrome type I presenting as adultpolycystic kidney disease 84

READ A P, MCKEOWN C, and ANDREWS T Hypo-melanosis of Ito and diploid/triploidy 240abst

see also AL-GAZALI L I et alKERZIN-STORRAR L et alMCKEOWN C et alREAD A P et alTHOMPSON E M et alWINTER R M et al

DONNENFELD A E, ZACKAI E H, MCDONALD D M,AQUINO R, and EMANUEL B S De novo 2q+masquerading as Smith-Lemli-Opitz syn-drome: case report 436

DOWNIE A W see THOMAS P K et alDRAINER I K see TOLMIE J L et alDU TOIT E D see MEYER T E et alDUBOWITZ V see COLE C G et al

HART K A et alHODGSON S et alHODGSON S V et alWALKER A et al

DUCKET D P and YOUNG I D A recombinant X chromo-some in a short statured girl resulting from a

maternal pericentric inversion 639 abstsee also DALGLEISH R et al

MEHTA L et alROBERTS S H et al

DUNCAN R 0 see WATT J L et alDUNCAN S L B see BARNES I C S et alDUNLOP L S and WINTER R M Analysis of perinatal

mortality by ethnic group: does consan-

guinity contribute to mortality due tocongenital malformations? 241 abst

DUNNING A see HORSTHEMKE B et alTAYLOR R et al

DYAS J see HUGHES I A et alDYER P A see STRACHAN T et alDYSON M see HODGSON S et al

EADY R A J see PATTON M A et alEASTON D see PONDER B A J et alEASTON D F see MATHEW C G P et alEDMONDS L D see LAMMER E J and EDMONDS L DEDWARDS H see PETERSEN M B et alEDWARDS J H Exclusion mapping 539The prediction of a recessive phenotype from a nearby

marker 636 abstsee also HUSON S M et al

SARFARAZI M et alEICHNER J E see FERRELL R E et alEL-BADRAMANY M H see FARAG T I et alEL-SAYAD M see FARAG T I et alELLES R see SUPER M et alELLIS P see BIRD A R et alELRAYYES E R see KOHN G et alEMANUEL B S see DONNENFELD A E et alERICKSON R P see DIEHL S R et alESQUIVEL L GARCIA- see GARCiA-ESQUIVEL LESSIG Y-P see NEU R L et alEVANS R see COLE W G et alEVANS T J see YATES J R W et alEVERS-KIEBooMS G, CASSIMAN J J, and VAN DEN BERGHE

H Attitudes towards predictive testing inHuntington's disease: a recent survey inBelgium 275

FAED M J W, ROBERTSON J, BECK J S, CATER J I, BOSE B,and MADLOM M M Features of DiGeorgesyndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;qll): case report 225

FAHMY D RIAD- see RIAD-FAHMY DFAIN P see BARKER D et alFALCONE B see SEIZINGER B R et alFANG L-Z see Hu D-N et alFARAG T I, AL-AWADI S A, HUNT M C, SATAYANATH S,

ZAHRAN M, USHA R, and UMA R A familywith spondyloepimetaphyseal dwarfism: a

,new' dysplasia or Kniest disease with auto-somal recessive inheritance? 596

TIPPETT P, EL-SAYED M, SUNDARESHAN T S, AL-OTHMAN S A, and EL-BADRAMANY M HUnilateral true hermaphrodite with46,XX/46,XY dispermic chimerism: casereport 784

see also AL-AWADI S A et alFARMELO M J see NEU R L et alFARNISH S see MATTHEWS S et alFARRALL M see JENSSON 0 et alFARYNAIRZ A G see SEIZINGER B R et alFERGUSON-SMITH M A see CONNOR J M et al

COOKE A et alGILLARD E F et alGOUDIE D R et alTOLMIE J L et alYATES J R W et al

FERGUSON-SMITH M E see AITKEN D A et alTOLMIE J L et al

FERRELL R E, BUETOW K H, DARBY J K, EICHNER J E,MURRAY J C, SMITH R, WAZIRI M, HUSON S,and RICCARDI V M Von Recklinghausen

in males with X linked ichthyosis at highfrequency 635 abst

see also GOUDIE D R et alYATES J R W et al

GILMORE D see TOLMIE J L et alGIMtNEZ C L see VALTUENA M M et alGITZELMANN R see SUPERTI-FURGA A et alGLORIEUX F see THAKKER R V et alGLUCKSON M M see MCMORROW L E et alGOLDBERG J D see TSIPouRAS P et alGOLDGAR D see BARKER D et alGOLDSMITH J see ROMAIN D R et alGOLDSTEIN D J, WARD R E, NICHOLSW C, and PALMER C G

Familial t(8;15)(p23-3;q22-3): report of twocases with dup(15)(q22-3-*qter) 684

GOMES M P see BARROS A et alGOODFELLOW P J see BUCKLE V J et alGOODFELLOW P N see BUCKLE V J et alGORDON-SMITH E C see MURER-ORLANDO M et alGOTZE C BENDER- see BENDER-GOTZE C HGOUDI D R, GILLARD E F, YATES J R W, AITKEN D,

AFFARA N A, TiPPETr P, and FERGUSON-SMITH M A Localisation of the gene forsteroid sulphatase deficiency (X linkedichthyosis) 239 abst

see also GILLARD E F et alGRANATA C see COLE C G et alGRECO M A see FRANCHINO C J et alGREEN A see MEYER T E et alGREEN L M COLUMBANO- see COLUMBANO-GREEN L MGREEN S H see TAYLOR A M R et alGRIMM T see BRANDL J and GRIMM TGROBBELAAR J J see KOTZE M J et alGRUNEBAUM M see KOHN G et alGu Y-P see Hu D-N et alGUILBERT P R see FITZSIMMONS J S and GUILBERT P RGUSELLA J F see SEIZINGER B R et al

WATKINS P C et al

HALL C see MACDERMOT K D et alHALL C M see THOMPSON E M et at

YOUNG I D et alHALL J G Thrombocytopenia and absent radius (TAR)

syndrome: syndrome of the month 79HAMILL M A, ROBERTS S H, HARPER P S, and LAURENCE

K M A family with two balanced trans-locations, three unbalanced segregants, anda carrier with XXX constitution 247 abst

HANN I M see SHIACH C et alHARDING A E, HOLT I J, and MORGAN-HUGHES J A

Restriction enzyme analysis of mitochondrialDNA in patients with mitochondrialmyopathy 243 abst

see also TAYLOR A M R et alHARGREAVE T B see CHANDLEY A C et alHARPER P S A monthly Journal of Medical Genetics:

editorial 1Editorial note and guidelines for unknown syndrome

reports 713Gene mapping and neurogenetics: editorial 513Medical genetics in China: editorial 577Osteogenesis imperfecta: editorial 385

neurofibromatosis: a linkage study ofcandidate and random marker genes 522

FIELDER A R see YOUNG I D et alFINLEY W H see SCARBROUGH P R et alFIRZLI S see DER KALOUSTIAN V M et alFISHER J A, BURN J, ALEXANDER F W, and GARDNER

MEDWIN D Angelman (happy puppet)syndrome in a girl and her brother 294

FISHER R A see VEJERSLEV L 0 et alFITZSIMMONS J S and GUILBERT P R Spastic paraplegia

associated with brachydactyly and coneshaped epiphyses: case report 702

FIXSEN J see THOMPSON E M et alFLUDE E see TAYLOR A M R et alFORBES C D see SHIACH C et alFORD C E see ZUFFARDI 0 et alFORSYTH C C see CONNACHER A A et alFORsYTH L see ROBB A et alFox D P see McKAY J et alFRANCHINO C J, BENECK D, GRECO M A, and WOLMAN S R

Partial trisomy 6q: case report with necropsyfindings: case report 300

FRASER D see THAKKER R V et alFRASER N see BUCKLE V J et alFRATINI A see SUTHERLAND G R et alFRYER A E, CHALMERS A, NOADES J, OSBORNE J P,

POVEY S, SEEDBURGH D, and YATES J R WTuberous sclerosis: a linkage study 237 abst

OSBORNE J P, TAN R, and SIGGERS D C Tuberoussclerosis: a large family with no history ofseizures or mental retardation 547

see also CONNOR J M et alFRYNS J P Congenital scalp defects with distal limb

reduction anomalies: syndrome of the month493

Fryns syndrome: a variable MCA syndrome with dia-phragmatic defects, coarse face, and distallimb hypoplasia: syndrome of the month271

FUKUYAMA Y see OKADA N et alFURGA A SUPERTI- see SUPERTI-FURGA A

GALT J see AITKEN D A et alGARCfA-ESQUIVEL L see RIVERA H et alGARCIA-SAGREDO J M see VALTUENA M M et alGARDNER A see HOWELL R T et alGARDNER-MEDWIN D see FISHER J A et alGARGANTINI L see ZUFFARDI 0 et alGAROZZO R see MATrINA T et alGARSON J see VAN DEN BERGHE J A et alGASKELL P C see PERICAK-VANCE M A et alGATruso J, PATrON M A, and BARAITSER M The clinical

spectrum of the Fraser syndrome: report ofthree new cases and review 549

GAZALI L I AL- see AL-GAZALI L IGERAEDTS J P M see VEENEMA H et alGHIOTi M P see PONzIo G et alGIANNOTTI A see PORFIRIO B et alGILLARD E F, AFFARA N A, YATES J R W, GOUDIE D R,

COOKE A, LAMBERT J, AITKEN D A, andFERGUSON-SMITH M A Characterisation of apolymorphic probe which detects deletions

Author index 797

798 Author index

see also HAMILL M A et alHUSON S M et alKELLY T E et alKOCH M and HARPER P SLAZAROU L P et alLUNT P W et alQUARRELL 0 W J et alSEIZINGER B R et alUPADHYAYA M et al

HASSOLD T, JACOBS P A, LEPPERT M, and SHELDON MCytogenetic and molecular studies of trisomy13 725

HASSOLD T J see JACOBS P A et alHARRIS M see HARTLEY A L et alHARRIS R Adult polycystic kidney disease: editorial 449

Ethical practices: conference report 251Medical ethics: conference report 251Teaching medical genetics in Britain 637 abstVisit of Health Minister to Clinical Genetics Society235Workshop: Training in medical genetics: conference

report 382and WINTER R Training course for senior registrars in

clinical genetics: conference report 383see also DONNAI D et al

KERZIN-STORRAR L et alMCKEOWN C et alSTRACHAN T et alSUPER M et alTHAKKER R V et al

HART K see HODGSON S et alHART K A, WALKER A, COLE C G, HODGSON S V,

JOHNSON L, DUBOWITZ V, and BOBROW MDNA deletion screening in Duchenne andBecker muscular dystrophy 243 abst

see also HODGSON S V et alWALKER A et al

HARTLEY A L, BIRCH J M, MARSDEN H B, and HARRIS MMalignant melanoma in families of childrenwith osteosarcoma, chondrosarcoma, andadrenal cortical carcinoma 664

HASEGAWA T see OKADA N et alHASSALL H see MUTTON D E et alHAWKINS J R see DALGLEISH R et alHAWKSWORTH G see MCKAY J et alHAYNES C see PERICAK-VANCE M A et alHEAGERTY A H M see PATTON M A et alHEATH P R see KUMAR D et alHECKMATF J see HODGSON S et alHELMS P see THOMPSON E M et alHEMEL J 0 VAN see VAN HEMEL J 0HENRY A see JACOBS P A et alHIGGINS S see MALTBY E L and HIGGINS SHIGGS D R see NICHOLLS R D et alHILL A V S, THEIN S L, MAVO B, WEATHERALL D J, and

CLEGG J B Non-deletion haemoglobin Hdisease in Papua New Guinea 767

see also BOWDEN D K et alHILL S see THOMPSON E M et alHOBBS W see SEIZINGER B R et alHODGSON I and KALSHEKER N DNA polymorphism of the

human a, antitrypsin gene in normal

subjects and in patients with pulmonaryemphysema 47

HODGSON S, CHILD A, and DYSON M Endocardial fibro-elastosis: possible X linked inheritance 210

WALKER A, COLE C, HART K, JOHNSON E, HECKMAT- J,DUBOWITZ V, and BOBROW M The applica-tion of linkage analysis to genetic counsellingin families with Duchenne or Beckermuscular dystrophy 152

HODGSON S V, WALKER A, HART K A, COLE C G,JOHNSON L, DUBOWITZ V, and BOBROW MDNA analysis in risk estimation for commongenetic disorders 238 abst

see also COLE C G et alHART K A et alWALKER A et al

HOFKER M see CONNOR J M et alHOFKER M H see VEENEMA H et alHOLLOWAY S see BURN J et alHOLT I J see HARDING A E et alHOLT S, LINDENBAUM R, BLACKWELL N, MUNRO E,

CRAIG I, and BOYD Y X chromosomebreakpoint near the DMD locus: molecularand cytogenetic evaluation 245 abst

HONEYMAN M M see HULTtN M A et alHOOGEBOOM A J M see PEET P J et alHOPKINSON D A see WATSON M L et alHORSTHEMKE B, DUNNING A, and HUMPHRIES S Identifica-

tion of deletions in the human low densitylipoprotein receptor gene 144

see also TAYLOR R et alHOUGHTON J A see TOMKINS P T et alHOWEL D see LILFORD R J et alHOWELL R T, GARDNER A, and DICKINSON V G and R

banding of lip deletions in aniridia-Wilms'tumour: technical note 114

HU D-N Prevalence and mode of inheritance of majorgenetic eye diseases in China 584

Hu D-N, QIu W-Q, Wu B-T, FANG L-Z, ZHou F, Gu Y-P,QIU W-Q, WU B-T, FANG L-Z, ZHOU F, Gu Y-P,

ZHANG Q-H, and YAN J-H Prevalence andgenetic aspects of deaf mutism in Shanghai589

HUDEK G see WIENKER T F et alHUGHES H E see DONNAI D et alHUGHES I A, DYAS J, RIAD-FAHMY D, and LAURENCE K M

Prenatal diagnosis of congenital adrenalhyperplasia: reliability of amniotic fluidsteroid analysis 344

HUGHES J A MORGAN- see MORGAN-HUGHES J AHULTEN M Clinical cytogenetics: conference report 250and JOHANNISSON R Meiosis in the fragile X mental

retardation syndrome 641 abstsee also BATANIAN J and HULTtN M

SAADALLAH N and HULTtN MHULTtN M A, HONEYMAN M M, MAYNE A J, and TARLOW

M J Homozygosity in piebald trait: case

report 568HUMAN D G see DE MOOR M M A et alHUMPHRIES S see HORSTHEMKE B et al

TAYLOR R et alHUNG W-Y see PERICAK-VANCE M A et al

Author index

HUNT M C see FARAG T I et alHUNTER A G W, THOMPSON D, and SPEEVAK M Mid-

trimester genetic amniocentesis in EasternOntario: a review from 1970 to 1985 335

HUSON S see FERRELL R E et alSEIZINGER B R et al

HUSON S M The First European Symposium on Neuro-fibromatosis: conference report 572

UPADHYAYA M, SARFARAZI M, EDWARDS J H, andHARPER P S Peripheral neurofibromatosis:progress in mapping the disease locus 246abst

see also LUNT P W et alQUARRELL 0 W J et alSARFARAZI M et alUPADHYAYA M et al

HYLAND V J see SIMMERS R N et alSUTHERLAND G R et al

IANNAZZI J see SEIZINGER B R et alIKEDA K see MOTEGI T et alILUS T A see MIKELSAAR R V-A et alIMRIE S see TOLMIE J L et alIMRIE S J see CONNOR J M et alIONASESCU V V see NICHOLLS R D et alIVENS A see JENSSON 0 et al

JACK E see MACDERMOT K D et alJACOBS P see MEYER T E et alJACOBS P A, HASSOLD T J, HENRY A, PET-rAY D, and

TAKAESU N Trisomy 13 ascertained in a

survey of spontaneous abortions 721see also HASSOLD T et al

JEFFREYS A J see MATHEW C G P et alJENKINS T see MEYER T E et alJENSSON 0, ARNASON A, BJORNSSON A, FARRALL M,

IVENS A, CHAMBERS J, WILLIAMSON R, andMOORE G Linkage in a large family segre-gating for cleft palate 242 abst

JEREMIAH S J see WATSON M L et alJOHANNISSON R see HULTEN M and JOHANNISSON RJOHNSON L see HART K A et al

HODGSON S et alHODGSON S V et alWALKER A et al

JOHNSTON A W Clinical impressions. Seventh Inter-national Congress of Human Genetics,Berlin: conference report 313

see also ORMEROD A D et alSIMPSON S and JOHNSTON A W

JONASSON J A see NICHOLLS R D et alJONES-QUARTEY K see CARR D M et alJONGBLOET P H Goldenhar syndrome and overlapping

dysplasias, in vitro fertilisation and ovo-pathy: hypothesis 616

JOOSTE P L see MEYER T E et alJULIER C see KAPLAN J-C et al

KAARIAINEN H Polycystic kidney disease in children: agenetic and epidemiological study of 82Finnish patients 474

KALOUSTIAN V M DER see DER KALOUSTIAN V MKALSHEKER N see HODGSON I and KALSHEKER N

KAPLAN H MOORE- see MOORE-KAPLAN HKAPLAN J-C, AURIAS A, JULIER C, PRIEUR M, and

SZAJNERT M-F Human chromosome 22: genemapping and medical genetics 65

KARABUS C see BIRD A R et alKAROLYI I J see KESKIAHO L et alKASKI U see DIEHL S R et alKATELEY J R see OAKS M K et alKATZ F see VAN DEN BERGHE J A et alKAZAZIAN H see KITTUR S et alKELLY T see LUNT P W et alKELLY T E, SCHNATTERLY P, SARFARAZI M, THOMAS N S T,

and HARPER P S Sequence of DNA probesand the gene for X linked Charcot-Marie-Tooth disease on proximal Xq 639 abst

KENWRICK S J see PATrERSON M et alKERZIN-STORRAR L, DONNAi D, SUPER M, MCKEOWN C,

READ A P. and HARRiS R The impact ofDMD DNA probes on reproductivedecisions 238 abst

see also DONNAi D et alKESKIAHO L, KNUUTILA S, PIHKO H, NUUTILA A, KASKI U,

KolVIKKO M, and DE LA CHAPELLE A Theinheritance of fragile sites: apparent absenceof fra(2)(q13) in the parents of threeunrelated probands 678

KESTON M and DALGLEISH R Testing candidate genes inthe Marfan syndrome 247 abst

see also DALGLEISH R et alKHUDR A see DER KALOUSTIAN V M et alKIEBOOMS G EVERS- see EVERS-KIEBoOMS GKILPATRICK M see SENIOR J et alKIM G S see THAKKER R V et alKING A see READ A P et al

THAKKER R V et alKING R H M see THOMAS P K et alKlTTUR S, LUBS M L, BAUER M, CHAKRAVARTi A, and

KAZAZIAN H Linkage analysis of neuro-fibromatosis 526

KiVLIN J see BARKER D et alKNUUTILA S see KESKIAHO L et alKOCH M and HARPER P S Non-progressive myotonias:

clinical and genetical aspects 634 abstKOHN G, ELRAYYES E R, MAKADMAH I, ROSLER A, and

GRUNEBAUM M Spondyloepiphysealdysplasia tarda: a new autosomal recessivevariant with mental retardation: case report366

KoiVIKKO M see KESKIAHO L et alKOOH S W see THAKKER R V et alKOTZE M J, LANGENHOVEN E, RETIEF A E, STEYN K,

MARAIS M P, GROBBELAAR J J, OOSTHUIZENC J J, WEICH H F H, and BENADE A J SHaplotype associations of three DNApolymorphisms at the human low densitylipoprotein receptor gene locus in familialhypercholesterolemia 750

KOUSSEFF B G see NEU R L et alKoVACIc A see YIP M-Y et alKRAUSS C M, CALDWELL D, and ATKINS L Interstitial

deletion and ring chromosome derived from16q: case report 308

799

800 Author index

KUMAR D Genetic linkage studies in Charcot-Marie-Toothdisease: failure to demonstrate linkagerelationships to chromosome 1 markers 241abst

CLARK A, CRESSWELL M A, and BLANK C E Phenotypicfeatures of a possible 8p trisomy segregatingin a family 247 abst

HEATH P R and BLANK C E Clinical manifestations oftrisomy 5q: case report 180

LA CHAPELLE A DE see DE LA CHAPELLE ALAHER B see TAYLOR A M R et alLAM-PO-TANG P R L see YiP M-Y et alLAMBERT J see GILLARD E F et alLAMBIASE S see ZUFFARDI 0 et alLAMMER E J and EDMONDS L D Trends in pyloric stenosis

incidence, Atlanta, 1968 to 1982 482LAMPAINEN E see RYYNANEN M et alLANE A H see SEIZINGER B R et alLANGENHOVEN E see KOTZE M J et alLANYON W G, LOUGHLIN S, and CONNOR J M Recombina-

tion between DX13 and St14 in a family withhaemophilia A 640 abst

LAURENCE K M see HAMILL M A et alHUGHES I A et alROBERTS S H et al

LAZAROU L see QUARRELL 0 W J et alLAZAROU L P, DAVIES F, SARFARAZI M, COLES G A, and

HARPER P S Adult polycystic kidney diseaseand linked RFLPs at the a globin locus:a genetic study in the South Wales popula-tion 466

LEFF A see MCMORROw L E et alLEONARD J V see OLEY C A et al

THOMPSON E M et alLEONI G B see ROSATELLI C et alLEPPERT M see BARKER D et al

HASSOLD T et alLi X see YAN Z-A et alLILFORD R J, THORNTON J G, and HOWEL D Value

assessments applied to the prenatal diagnosisof Down's syndrome by chorionic villusbiopsy or amniocentesis 636 abst

LINDENBAUM R see HOLT S et alMACDERMOT K D et al

LITTLE E see ROBERTS S H et alLLERENA J see MURER-ORLANDO M et alLoi A see AKAR N et alLOUGHLIN S see LANYON W G et alLow R see TOLMIE J L et alLUBS M L see KITTUR S et alLUNT P W, KELLY T, ZONANA J, COMPSTON A, and

HARPER P S X linked bulbospinal neuro-nopathy in a South Wales kindred 640 abst

MEREDITH A L, HUSON S M, SARFARAZI M, andHARPER P S The application of closely linkedrestriction fragment length polymorphisms incounselling families with myo-tonic dystrophy239 abst

LURIE I W see MIKELSAAR R V-A et alLYNCH J R see THEIN S L et al

MCBEATH S see CHANDLEY A C et alMACDERMOT K D, JACK E, COOK A, TURLEAU C,

LINDENBAUM R, PEARSON J, PATEL C,BARNES P. PORTCH J, and CRAWFORD M D'AClinical and cytogenetic findings in twofamilies with a ring 5 chromosome 638 abst

MORGAN S H, CHESHIRE J K, and WILSON T M Use ofclosely linked RFLPs to detect theAnderson-Fabry disease gene 635 abst

ROTH S C, HALL C, and WINTER R M Epiphysealdysplasia of the femoral head, mild vertebralabnormality, myopia, and sensorineuraldeafness: report of a pedigree with auto-somal dominant inheritance 602

McDONALD D M see DONNENFELD A E et alMCGEE J O'D see NICHOLLS R D et alMcGUIRE M see MURER-ORLANDO M et alMCKAY E see ORMEROD A D et al

TAYLOR A M R et alMCKAY J, Fox D P, BROWN J, HAWKSWORTH G, and

BRUNT P W Sulphasalazine causes chromo-some changes in patients with inflammatorybowel disease 244 abst

MCKEOWN C, DAWSON J, and DONNAI D Audit of medicalgenetic contribution to clinical managementin the neonatal period 238 abst

MCKEOWN C, READ A P, DODGE A, STECKO 0, MERCERA, and HARRIS R Wolf-Hirschhorn locus isdistal to D4S10 on short arm of chromosome4 410

see also DONNAI D et alKERZIN-STORRAR L et alREAD A P et al

MCMORROW L E, TOTH I R, GLUCKSON M M, LEFF A, andWOLMAN S R A lethal presentation ofde novo deletion 7q: case report 629

MACNICOL A M see WATSON M L et alMCQUEEN I see QUARRELL 0 W J et alMADDERS D J see YOUNG I D and MADDERS D JMADLOM M M see FAED M J W et alMADOKORO H see OHDO S et alMAKADMAH I see KOHN G et alMALCOLM S see OLEY C A et al

THOMPSON E M et alVAN DEN BERGHE J A et al

MALDONADO W E see OAKS M K et alMALTBY E L Folate sensitive fragile sites on the X chromo-

some 242 abstand HIGGINS S Folate sensitive site at 10q23 and its

expression as a deletion: short communica-tion 299

MANSFIELD T see Cox D W and MANSFIELD TMARAFIE M J see NAGUIB K K et alMARAIS M P see KOTZE M J et alMARASCHIO P see ZUFFARDI 0 et alMARRA A see PONzIo G et alMARSDEN H B see HARTLEY A L et alMARTfNEZ Y MARTINEZ R see RIVERA H et alMATHEW C see BIRD A R et alMATHEW C G, THORPE K, EASTON D F, CARTER C,

WALLIS C, WONG Z, JEFFREYS A J, andPONDER B A J Linkage analysis of British

Author index

and Indian families with Von Reckling-

hausen neurofibromatosis 524

MATKINS S V, MEYER J E, and BERRY A C A child with

partial monosomy 6q secondary to a

maternal direct insertional event: case report

227MATSON P see YOVICH J et alMATTHEW D J see THOMPSON E M et alMATTHEWS S, FARNISH S, and YOUNG I D Distal sym-

phalangism with involvement of the thumbs

and big toes 640 abstMArrINA T, SORGE G, MILONE G, GAROZZO R, and CONTI L

Duplication 9p due to unequal sister

chromatid exchange: case report 303

MAUFF G see WIENKER T F et alMAVo B see HILL A V S et alMAYEROVA A see WIENKER T F et alMAYES J S see CARPENTER N J et alMAYNE A J see HULTEN M A et alMEDWIN D GARDNER- see GARDNER-MEDWIN D

MEHTA L, DUCKETT D P, and YOUNG I D Behaviourdisorder in monosomy l0qter: short report

185MEINECKE P and MEINECKE R Multiple malformation

syndrome including cleft lip and palate and

cardiac abnormalities due to an interstitial

deletion of chromosome 12q: short report

187MEINECKE R see MEINECKE P and MEINECKE R

MEIX J M A see VALTUEfNA M M et alMERCER A see MCKEOWN C et alMEREDITH A L see LUNT P W et al

QUARRELL 0 W J et alMERLINI L see COLE C G et alMESSINIS I see WATT J L et alMEYER J E see MATKINS S V et alMEYER T E, BALLOT D, BOTHWELL T H, GREEN A,

DERMAN D P, BAYNES R D, JENKINS T,JOOSTE P L, DU ToIT E D, and JACOBS P TheHLA linked iron loading gene in an Afri-

kaner population 348

MIKELSAAR R V-A, ILUS T A, and LURIE I W Distal

trisomy 14q: short report 380

MILLER K L see NEU R L et alMILLINGTON-WARD A see VEENEMA H et alMILONE G see MATITINA T et alMINODA K see MOTEGi T et alMITCHELL A R see CHANDLEY A C et alMODI N and COOKE R W I Congenital non-chylous pleural

effusion with Down's syndrome: case report

567

MOOR M M A DE see DE MOOR M M AMOORE G see BENNETT C P et al

JENSSON 0 et alMOORE J R see YOUNG I D and MOORE J R

YOUNG I D et alMOORE-KAPLAN H see CARR D M et alMOREAU N, TEYSSIER M, and ROLLET J A new case of

(Y;1) balanced reciprocal translocation in an

infertile man with Hodgkin's disease: short

report 379

MORGAN S H see MACDERMOT K D et al

MORGAN-HUGHES J A see HARDING A E et alMORI N see OHDA S et alMOSSMAN J see YOUNG I D et alMOTEGI T, IKEDA K, WATANABE K, YANAGAWA Y, and

MINODA K Deletion (13)(q13q14-3) withretinoblastoma: confirmation and extensionof a recognisable pattern of clinical featuresin retinoblastoma patients with 13q deletion:case report 696

MOUNTFORD R C see READ A P et alTHAKKER R V et al

MUELLER R F The Alagille syndrome (arteriohepaticdysplasia): syndrome of the month 621

see also AL-GAZALI L I et alMUFTI M H and WOOD S K Ectrodactyly in sisters and half

sisters 220MULCAHY M see YOVICH J et alMULLEY J C see SIMMERS R N et al

SUTHERLAND G R et alMULVIHALL J J see SPENCE M A et alMUNRO E see HOLT S et alMURER-ORLANDO M, LLERENA J, ZAHED L, MCGUIRE M,

BOBROW M, GORDON-SMITH E C, andRODECK C M Chorionic villus sampling(CVS) in Fanconi anaemia 245 abst

MURRAY J C see FERRELL R E et alMUTTON D E, CHOWN K, BERRY A C, THOMSON L,

HASSALL H, and BOBROW M PRUFILE: a

microcomputer database for clinical genetics245 abst

NAGUIB K K, TEEBi A S, AL-AWADI S A, and MARAFIE M JBrachmann-de Lange sydrome in sibs: case

report 627see also AL-AWADI S A et al

NAKAMURA Y see BARKER D et alNAOR N, AMIR Y, COHEN T, and DAVIDSON S Trisomy 13

in monozygotic twins discordant for majorcongenital anomalies: case report 500

NELSON R see BURN J et alNEU R L, O'BRIEN W F, KOUSSEFF B G, TEDESCO T A,

FARMELO M J, ESSIG Y-P, MILLER K L, andNICHOLS P M Ultrasound identification ofapparently normal genitalia in a 46,X,+marfetus: case report 782

NEVIN N C see CONNOR J M et alNEVRKLA E J see WINTER R M et alNGUYEN K see BARKER D et alNICHOLLS R D, JONASSON J A, MCGEE J O'D, PATIL S,

IONASESCU V V, WEATHERALL D J, andHIGGs D R High resolution gene mapping ofthe human a globin locus 39

NICHOLS P M see NEU R L et alNICHOLS W C see GOLDSTEIN D J et alNOADES J see FRYER A E et alNUUTILA A see KESKIAHO L et alNYGAARD P see PETERSEN M B et al

OAKS M K, O'MALLEY D P, KATELEY J R, andMALDONADO W E Detection of centromericregions of chromosomes by immuno-

801

fluorescence: procedure and application:short communication 498

OBERHOLZER V see OLEY C A et alO'BRIEN W F see NEU R L et alO'CONNELL P see BARKER D et alOHDO S, MADOKORO H, SONODA T, TAKEI M, YASUDA H,

and MORi N Association of tetra-amelia,ectodermal dysplasia, hypoplastic lacrimalducts and sacs opening towards the exterior,peculiar face, and developmental retardation609

OKADA N, HASEGAWA T, OSAWA M, and FUKUYAMA Y Acase of de novo interstitial deletion 3q: casereport 305

OLD J M see THEIN S L et alOLEY C A, MALCOLM S, OBERHOLZER V, LEONARD J V,

and PEMBREY M E Carrier detection inornithine carbamoyl transferase deficiency635 abst

O'MALLEY D P see OAKS M K et alOOSTHUIZEN C J J see KOTZE M J et alO'RIORDAN J L H see READ A P et al

THAKKER R V et alORLANDO M MURER- see MURER-ORLANDO MORMEROD A D, WHITE M I, McKAY E, and JOHNSTON A W

Incontinentia pigmenti in a boy withKlinefelter's syndrome: case report 439

OSAWA M see OKADA N et alOSBORNE J P see FRYER A E et alOSMAN H see CONNOR J M et alOTHMAN S A AL- see AL-OTHMAN S AOZELIUS L J see SEIZINGER B R et al

PALMER C G see GOLDSTEIN D J et alPAPP Z see VARADI V et alPARFITT R G see ROMAIN D R et alPARRY D M see SEIZINGER B R et al

SPENCE M A et alPATEL C see MACDERMOT K D et alPATIL S see NICHOLLS R D et alPATTERSON M, BELL M, KENWRICK S J, and DAVIES K E

Pulsed field gel analysis around the fragilesite at Xq27*3 637 abst

PATrON M A Report on conference on new prospects ingenetic diseases: conference report 642

BARAITSER M, HEAGERTY A H M, and EADY R A J Anoculocerebral hypopigmentation syndrome:a case report with clinical, histochemical,and ultrastructural findings: case report 118

TOLMIE J, RUTHNUM P, BAMFORTH S, BARAITSER M, andPEMBREY M Congenital cutis laxa withretardation of growth and development 556

see also BARAITSER M and PATTON M AGATruSo J et al

PEARSON J see MACDERMOT K D et alPEARSON P L see VEENEMA H et alPEET P J, PEREIRA R R, VAN HEMEL J 0, and

HOOGEBOOM A J M Interstitial del(13)(q21.3q31) associated with psychomotorretardation, eczema, and absent suck andswallowing reflex: case report 786

PEMBREY M see PATrON M A et al

PEMBREY M E Dr John Alexander Fraser Roberts, CBE,FRS, MA, DSc, MD, FRCP, FRCPsych,Obituary 442

see also OLEY C A et alPONDER B A J et alTHOMPSON E M et alYOUNG I D et al

PERIERA R R see PEET P J et alPERICAK-VANCE M A, YAMAOKA L H, VANCE J M,

AYLSWORTH A S, RoSSENWASSER G 0 D,GASKELL P C, ALBERTS M J, HUNG W-Y,HAYNES C, and RoSEs A D Linkage studiesin peripheral neurofibromatosis 530

see DIEHL S R et alPETERSEN M B, TRANEBJAERG L, TOMMERUP N, NYGAARD

P, and EDWARDS H New assignment of theadenosine deaminase gene locus to chromo-some 20q13-11 by study of a patient withinterstitial deletion 20q 93

and WARBURG M Interstitial deletion lp in a 30 year

old woman: case report 229PETrAY D see JACOBS P A et alPETFIGREw A F see SHIACH C et alPIHKO H see KESKIAHO L et alPIRASTU M see AKAR N et alPIRRIT L see SHIACH C et alPIRRIT L A see CONNOR J M et alPLOUGHMAN L M see DIEHL S R et alPo-TANG P R L LAM- see LAM-PO-TANG P R LPONDER B and WILLIAMS E D Second International

Workshop on Multiple Endocrine NeoplasiaType 2 (MEN 2), Cambridge, 17 to 20September 1986: conference report 507

PONDER B A J, EASTON D, COFFEY R, PONDER M A,PEMBREY M E, TELENIUS-BERG M,TELENIUS H, AND THE CANCER RESEARCHCAMPAIGN MEDULLARY THYROID GROUPAge at onset in multiple endocrine neo-

plasia, type 2a (MEN 2a) and implicationsfor screening 237 abst

see also MATHEW C G P et alPONDER M A see PONDER B A J et alPONzIo G, SAVIN E, CATTANEO G, GHIOTrI M P,

MARRA A, ZUFFARDI 0, and DANESINO CTranslocation X;13 in a patient with retino-blastoma: case report 431

PORFIRIo B, VALORANI M G, GIANNOrrI A, SABETrA G,and DALLAPICCOLA B Ring 20 chromosomephenotype: case report 375

PORTCH J see MACDERMOT K D et alPOVEY S see FRYER A E et alPRICE D A see STRACHAN T et alPRICE H A see ROBERTS S H et alPRIEUR M see KAPLAN J-C et alPURVIS-SMITH S see YIP M-Y et al

Qiu W-Q see Hu D-N et alQUARRELL 0 W J, HUSON S M, MCQUEEN I, and HARPER

P S An unusual case of segmental neuro-fibromatosis 247 abst

MEREDITH A L, TYLER A, YOUNGMAN S, LAZAROU L,and HARPER P S Exclusion tests in pregnancy

802 Author index

803Author index

for Huntington's chorea: clinical use of theDNA probe G8 239 abst

QUARTEY K JONES see JONES-QUARTEY K

RAMIREZ F see TsiPouRAs P and RAMIREZ FTsIPOURAS P et al

RAoN A see DEVi A R Ret alREAD A P Seventh International Congress of Human

Genetics, Berlin. Update on the X chromo-some: conference report 188

DONNAI D, McKEOWN C, and ANDREWS T Studies onthe origin of hypomelanosis of Ito 240 abst

THAKKER R V, DAVIES K E, MOUNTFORD R C, KING A,DAVIES M, and O'RIORDAN J L H Furtherlocalisation of the gene for X linked hypo-phosphataemia 242 abst

see also DONNAI D et alKERZIN-STORRAR L et alMCKEOWN C et alSUPER M et alTHAKKER R V et al

REBBECK T see AITKEN D A et alREEDERS S see SUTHERLAND G R et alREEDERS S T see RYYNANEN M et alREN Z-R see ZENG Y-T et alRETIEF A E see KOTZE M J et alRIAD-FAHMY D see HUGHES I A et alRICCARDI V M and CAREY J C Von Recklinghausen

neurofibromatosis and genetic linkagestudies: clinical considerations 521

see FERRELL R E et alRIVERA H, VELAZQUEZ R, GARCfA-ESQUIVEL L,

MARTfNEZ Y MARTINEZ R and CANTO J MDe novo inv(5)(p15q22), del(5)(p15) in aboy with cri du chat syndrome: short report186

ROBB A, FORSYTH L, and TOLMIE J Partial trisomy 17q anda generalised bone dysplasia in a 12 weekfetus: case report 502

ROBERTS J A F Obituary 442ROBERTS S H, COWIE V A, and SINGH K R An intra-

chromosomal insertion of chromosome 13 ina family with psychosis and mental sub-normality 248 abst

DUCKETT D P, LIT-TLE E, and LAURENCE K M Prenataldetection of a male pseudohermaphroditeresulting from an X;Y translocation 248abst

PRICE H A, and LAURENCE K M Homozygous para-centric inversion 12 in a mentally retardedboy 248 abst

see also HAMILL M A et alTHOMPSON P W and ROBERTS S HWHEATER R F and ROBERTS S H

ROBERTSON J see FAED M J W et alROBERTSON M E see THOMPSON E M et alRODECK C M see MURER-ORLANDO M et alROLLET J see MOREAU N et afROMAIN D R, GOLDSMITH J, COLUMBANO-GREEN L M,

CHAPMAN C J, SMYTHE R H, and PARFITT R GPartial monosomy 12pl3- 1--13-3: casereport 434

ROSATELLI C, LEONI G B, TUVERI T, SCALAS M T,Dl TUCCI A, and CAO A i thalassaemiamutations in Sardinians: implications forprenatal diagnosis 97

RoSEs A D see DIEHL S R et alPERICAK-VANCE M A et al

ROSLER A see KOHN G et alROSSENWASSER G 0 D see PERICAK-VANCE M A et alROTH S C see MACDERMOT K D et alROULEAU G see SEIZINGER B R et alRoY J C see SEIZINGER B R et alRUTHNUM P see PATTON M A et alRYYNANEN M, DOLATA M M, LAMPAINEN E, and REEDERS

S T Localisation of a mutation producingautosomal dominant polycystic kidneydisease without renal failure 462

SAADALLAH N alid HULTtN M The size of the invertedsegment and heterochromatin for loopformation in pericentric inversion 641 abst

SABETTA G see PORFIRIo B et alSAGREDO J M GARCIA- see GARCIA-SAGREDO J MSARFARAZI M, HUSON S M, and EDWARDS J H An

exclusion map for Von Recklinghausenneurofibromatosis 515

see also HUSON S M et alKELLY T E et alLAZAROU L P et alLUNT P W et alUPADHYAYA M et alWOLAK G and SARFARAZI M

SATYANATH S see FARAG T I et alSAVIN E see PONzIo G et alSAY B and BARBER N Mental retardation with blepharo-

phimosis: correspondence 511see CARPENTER N J et al

SAYED M EL- see EL-SAYED MSCALAS M T see ROSATELLI C et alSCARBROUGH P R, CARROLL A J, FINLEY W H and

BRIDGES D R A de novo 3p;8p unbalancedtranslocation resulting in partial dup(3p) andpartial del(8p): case report 174

SCHINZEL A Ulnar-mammary syndrome: syndrome of themonth 778

SCHNATERLY P see KELLY T E et alSCHWARTZ R C see TSIPOURAS P et alSCHWARZ M see SUPER M et alSEEDBURGH D see FRYER A E et alSEIZINGER B R, ROULEAU G, LANE A H, OZELIUS L J,

FARYNIARZ A G, IANNAZZI J, HOBBS W,RoY J C, FALCONE B, HUSON S, HARPER P S,PARRY D M, BADER J L, SPENCE M A, andGUSELLA J F DNA linkage analysis in VonRecklinghausen neurofibromatosis 529

SELIKOWITZ M see YIP M-Y et alSELLER M J Hyperthermia as a teratogen 636 abst

Sex and cause of neural tube defects 238 abstSENIOR J, KILPATRICK M, and WEBB T Comparative

linkage studies in the fragile X syndrome 640abst

SHANNON R S see DALGLEISH R et alSHARMA A K see THOMAS P K et al

804 Author index

SHELDON M see HASSOLD T et alSHIACH C, CONNOR J M, PIRRIT L, PErrIGREw A F, HANN

I M, and FORBES C D Application of twointragenic and two extragenic probes forcarrier detection and early prenatal diagnosisin haemophilia A 246 abst

SPOWART K, CONNOR J M, PETTIGREW A F, AND HANNI M Application of a cDNA probe for von

Willebrand factor in families with vonWillebrand disease 245 abst

SIGGERS D C see FRYER A E et alSILLENCE D 0 see COLE W G et alSIMMERS R N, MULLEY J C, HYLAND V J, CALLEN D F, and

SUTHERLAND G R Mapping the human a

globin gene complex to 16p132-2pter 761SIMPSON K see YOUNG I D and SIMPSON K

YOUNG I D et alSIMPSON S and JOHNSTON A W A study of the prevalence of

Huntington's chorea in the GrampianRegion 243 abst

SINGH K R see ROBERTS S H et alWHEATER R F et al

SINNOTr P A see STRACHAN T et alSKOLNICK M see BARKER D et alSMITH E GORDON- see GORDON-SMITH E CSMITH M A FERGUSON- see FERGUSON-SMITH M ASMITH M E FERGUSON- see FERGUSON-SMITH M ESMITH R see FERRELL R E et alSMITH S PURVIS- see PURVIS-SMITH SSMYTHE R H see ROMAIN D R et alSOFAER J A see CRAWFORD F C and SOFAER J ASONODA T see OHDO S et alSORGE G see MATTINA T et alSPARKES R S see SPENCE M A et alSPEED R M see CHANDLEY A C et alSPEEVAK M see HUNTER A G W et alSPENCE M A, SPARKES R S, PARRY D M, BALE S J,

CORTESSIS V, and MULVIHILL J J Geneticlinkage studies with neurofibromatosis: thequestion of heterogeneity 527

see SEIZINGER B R et alSPOWART K see SHIACH C et alSTACEY M see TAYLOR A M R et alSTECKO 0 see McKEOWN C et alSTEINMANN B see SUPERTI-FURGA A et alSTEPHANIE L see CONNOR J M et alSTEPHEN G S see COUZIN D A et alSTEWART W K see CONNACHER A A et alSTEYN K see KOTZE M J et alSTORRAR L KERZIN- see KERZIN-STORRAR LSTRACHAN T, SINNOTT P A, DYER P A, PRICE D A, and

HARRIS R Polymorphism of complement C4genes and 21-hydroxylase genes in familieswith congenital adrenal hyperplasia 640abst

SUNDARESHAN T S see FARAG T I et alSUPER M, ELLES R, SCHWARZ M, READ A P, and HARRIS

R Early experience using DNA probes incystic fibrosis 239 abst

SUPER M see KERZIN-STORRAR L et alSUPERTI-FURGA A, GITZELMANN R, and STEINMANN B

Dominant Ehlers-Danlos syndrome type IV

caused by a shortened mRNA type IIIcollagen 636 abst

SURTI U see VEJERSLEv L 0 et alSUTHERLAND G R, REEDERS S, HYLAND V J, CALLEN D F,

FRATINI A, and MULLEY J C Moleculargenetics of human chromosome 16: genemapping and medical genetics 451

see also SIMMERS R N et alSZAJNERT M-F see KAPLAN J-C et alSZEIFERT G T see VARADI V et al

TAKAESU N see JACOBS P A et alTAKEI M see OHDO S et alTAN R see FRYER A E et alTANG P R L LAM-PO- see LAM-PO-TANG P R LTANZI R E see WATKINS P C et alTARLOW M J see HULTtN M A et alTAVARES M C see BARROS A et alTAVARES M P see BARROS A et alTAYLOR A M R, FLUDE E, LAHER B, STACEY M, McKAY E,

WATr J, GREEN S H, and HARDING A EVariant forms of ataxia telangiectasia 669

TAYLOR R, HORSTHEMKE B, DUNNING A, and HUMPHRIESS Identification of a second DNA poly-morphism in the human low density lipo-protein receptor gene 242 abst

TEDESCO T A see NEU R L et alTEEBI A S see AL-AWADI S A et al

NAGUIB K K et alTELENIUS H see PONDER B A J et alTELENIUS-BERG M see PONDER B A J et alTEMPLETON A A see WATr J L et alTENENBAUM A see ZLOTOGORA J et alTEYSSIER M see MOREAU N et alTHAKKER R V, READ A P, DAVIES K E, WHYTE M P,

WEKSBERG R, GLORIEUX F, DAVIES M,MOUNTFORD R C, HARus R, KING A, KIM G S,FRASER D, KOOH S W, and O'RIORDANJ L H Bridging markers defining the mapposition of X linked hypophosphataemicrickets 756

see also READ A P et alTHEIN S L, LYNCH J R, OLD J M, and WEATHERALL D J

Direct detection of haemoglobin E withMnI: short communication 110

see also HILL A V S et alTHOMAS N S T see KELLY T E et alTHOMAS P K, KING R H M, CHIANG R, SHARMA A K, and

DOWNIE A W Neurofibromatous neuropathy237 abst

THOMPSON D see HUNTER A G W et alTHOMPSON E and BARAITSER M FG syndrome: syndrome

of the month 139THOMPSON E M, DONNAI D, BARAITSER M, HALL C M,

PEMBREY M E, and FIXSEN J Multiple ptery-gium syndrome: evolution of the phenotype733

HILL S, LEONARD J V, and PEMBREY M E A girl with theWeaver syndrome: case report 232

MALCOLM S, ROBERTSON M E, DINWIDDIE R, MATTHEWD J, HELMS P, and PEMBREY M EExperience of offering a service for prenatal

Author index

diagnosis of cystic fibrosis by DNA analysis634 abst

YOUNG I D, HALL C M, and PEMBREY M E Recurrencerisks and prognosis in severe sporadic osteo-genesis imperfecta 390

see also YOUNG I D et alTHOMPSON P W and ROBERTS S H A new variant of

chromosome 16 248 abstTHOMSON L see MUTTON D E et alTHOMSON R see COOKE A et alTHORNTON J G see LILFORD R J et alTHORPE K see MATHEW C G P et alTIPPETF P see FARAG T I et al

GOUDIE D R et alTOIT E D Du see Du TOIT E DTOLAROVA M Autosomal dominant syndrome of ecto-

dermal dysplasia and clefting 247 abstTOLMIE J see COOKE A et al

PATTON M A et alROBB A et al

TOLMIE J L, BOYD E B, FERGUSON-SMITH M E, BATSTONE P,and CONNOR J M Sibs with severe congenitalmicrocephaly, retarded growth and multiplechromosome mosaicism 246 abst

COUTTS N, and DRAINER I K Congenital anal anomaliesin two families with the Opitz G syndrome688

FERGUSON-SMITH M A, AFFARA N A, BOYD E,CAMPBELL J, GILMORE D, IMRIE S, Low R,and FERGUSON-SMITH M E Phenotype-genotype studies in a girl with 48 chromo-omes: 48,XX,idic(Yq), idic(Yq) 637 abst

ToMKINS P T, CARROLL C V, and HOUGHTON J A Theapplication of image-analysis techniques tothe study of sperm chromosomes 242 abst

TOMMERUP N see PETERSEN M B et alTONG J-H see ZENG Y-T et alTOTH I R see MCMORROW L E et alT6TH Z see VARADI V et alTRANEBJAERG L see PETERSEN M B et alTROWSDALE J see CUNLIFFE V and TROWSDALE JTRUMPINGTON, LADY Under-Secretary of State for Health

in the House of Lords. Address given tomeeting of Clinical Genetics Society held atRoyal College of Physicians, London on5 and 6 December, 1986 235

TSIPOURAS P and RAMIREZ F Genetic disorders ofcollagen: review article 2

SCHWARTZ R C, GOLDBERG J D, BERKOWITZ R L, andRAMIREZ F Prenatal prediction of osteo-genesis imperfecta (01 type IV): exclusion ofinheritance using a collagen gene probe 406

Tucci A Di see Di Tucci ATUCKER S M see WINTER R M et alTURLEAU C see MACDERMOT K D et alTUVERI T see ROSATELLI C et alTYLER A see QUARRELL 0 W et al

UMA R see FARAG T I et alUPADHYAYA M, SARFARAZI M, HUSON S M, and HARPER

P S Further exclusion data for theVon Recklinghausen neurofibromratosis

805

gene: a genetic linkage study of 19 poly-morphic markers 534

see also HUSON S M et alUSHA R see FARAG T I et al

VALORANI M G see PORFIRIo B et alVALTUENA M M, GARCIA-SAGREDO J M, VILLA A M,

GIMtNEZ C L, and MEIX J M A 18q-syndrome and extraskeletal Ewing'ssarcoma: case report 426

VAN DEN BERGHE H see EVERS-KIEBOOMS G et alVAN DEN BERGHE J A, GARSON J, and MALCOLM S Non-

radioactive in situ hybridisation maps 1 kbsingle copy gene 637 abst

MALCOLM S, KATZ F, and CHESSELLS J M Three infantswith null acute lymphoblastic leukaemia withchromosome rearrangements at 11q23: is afragile site involved? 638 abst

VAN HEMEL J 0 see PEET P J et alVANCE J M see PERICAK-VANCE M A et alVANCE M A PERICAK- see PERICAK-VANCE M AVARADI V, CSECSEI K, SZEIFERT G T, T6TH Z, and PAPP Z

Prenatal diagnosis of X linked hydrocephaluswithout aqueductal stenosis 207

VARTANIAN M V see CARR D M et alVEENEMA H, CARPENTER N J, BAKKER E, HOFKER M H,

MILLINGTON-WARD A, and PEARSON P LThe fragile X syndrome in a large family. IIIInvestigations on linkage of flanking DNAmarkers with the fragile site Xq27 413

GERAEDTS J P M, BEVERSTOCK G C, and PEARSON P LThe fragile X syndrome in a large family.I Cytogenetic and clinical investigations 23

VEENEMA T, and GERAEDTS J P M The fragile Xsyndrome in a large family. II Psychologicalinvestigations 32

VEENEMA T see VEENEMA H et alVEJERSLEv L 0, FISHER R A, SURTI U, and WAKE N

Hydatidiform mole: parental chromosomeaberrations in partial and complete moles613

VELAZQUEZ R see RIVERA H et alVILLA A M see VALTUENqA M M et alVOGEL F Research strategies in human behaviour genetics

129VOWLES M A follow up study of 80 handicapped school

leavers interviewed five to seven years aftergenetic counselling 241 abst

WAKE N see VEJERSLEv L 0 et alWALKER A, HART K A, COLE C G, HODGSON S V,

JOHNSON L, DUBOWITZ V, and BOBROW MThe value of determining the male andfemale mutation rates in Duchenne andBecker muscular dystrophy using RFLPs 244abst

see also COLE C G et alHART K A et alHODGSON S et alHODGSON S V et al

WALLIS C see MATHEW C G P et al

Author index

WALTHER J-U and BENDER-GOTZE C Cytogeneticmonitoring of bone marrow function andquality after transplantation 638 abst

WANG H-L see ZENG Y-T et alWANG Z-Y see ZENG Y-T et:alWARBURG M see PETERSEN M B and WARBURG MWARD A MILLINGTON- see MILLINGTON-WARD AWARD R E see GOLDSTEIN D J et alWATANABE K see MOTEGI T et alWATKINS P C, TANZI R E, CHENG S V, and GUSELLA J F

Molecular genetics of human chromosome21: gene mapping and medical genetics 257

WATSON M L, WRIGHT A F, MACNICOL A M, ALLAN P L,CLAYTON J F, DEMPSTER M, JEREMIAH S J,CORNEY G, and HoPKINSON D A Studies ofgenetic linkage between adult polycystickidney disease and three markers on

chromosome 16 457WArr J see TAYLOR A M R et alWATr J L, TEMPLETON A A, MESSINIS I, BELL L,

CUNNINGHAM P, and DUNCAN R 0 Trisomy 1in an eight cell human pre-embryo 60

see also COUZIN D A et alWAZIRI M see FERRELL R E et alWEATHERALL D J see BOWDEN D K et al

HILLAVSetalNICHOLLS R D et alTHEIN S L et al

WEBB T see SENIOR J et alWEICH H F H see KOTZE M J et alWEKSBERG R see THAKKER R V et alWEXLER M R see ZLOTOGORA J et alWHEATHER R F, COWIE V A, and SINGH K R A mentally

retarded male with a 49,XXXYY karyotype248 abst

and ROBERTS S H An improved lymphocyte culturetechnique: deoxycytidine release of a

thymidine block and use of a constanthumidity chamber for slide making: technicalnote 113

WHITE M I see ORMEROD A D et alWHITE R see BARKER D et alWHYTE M P see THAKKER R V et alWIENKER T F, HUDEK G, BISSBORT S, MAYEROVA A,

MAUFF G, and BENDER K Linkage studies in apedigree with Van der Woude syndrome 160

WIGGLESWORTH J S see WINTER R M et alWILKINSON K see AL-GAZALI L I et alWILLARD H see BARKER D et alWILLIAMS E D see PONDER B and WILLIAMS E DWILLIAMS J and DEAR P R F An unbalanced t(X;10) mat

translocation in a child with congenitalabnormalities: short report 633

WILLIAMSON R Seventh International Congress of HumanGenetics. Molecular genetics: conferencereport 123

see also JENSSON 0 et alWILSON D P see CARPENTER N J et alWILSON TM see MACDERMOT K D et alWINTER R see HARRIS R and WINTER RWINTER R M Population genetics implications of the

premutation hypothesis for the generation of

the fragile X mental retardation gene 240abst

and BARAITSER M The London Dysmorphology Data-base: correspondence 509

CAMPBELL S, WIGGLESWORTH J S, and NEVRKLA E J Apreviously undescribed syndrome of thoracicdysplasia and communicating hydrocephalusin two sibs, one diagnosed prenatally byultrasound 204

DONNAI D, BURN J, and TUCKER S M Fetal valproatesyndrome: is there a recognisable pheno-type? 692

see also DONNAI D et alDUNLOP L S and WINTER R MMACDERMOT K D et al

WOLAK G and SARFARAZI M Plot 2000: universal pedigreeplotting programme 246 abst

WOLFE J see BUCKLE V J et alWOLMAN S R see FRANCHINO C J et al

MCMORROw L E et alWONG Z see MATHEW C G P et alWOOD K see BIRD A R et alWooD S K see MuFTi M H and WooD S KWRIGHT A F see WATSON M L et alWRIGHT E see BARKER D et alWU B-T see HU D-N et al

YAMAOKA L H see PERICAK-VANCE M A et alYAN J-H see Hu D-N et alYAN Z-A, Li X, and ZHOU X The effect of hydroxyurea on

the expression of the common fragile site at3p14 593

YANAGAWA Y see MOTEGI T et alYASUDA H see OHDO S et alYATES J R W, GILLARD E F, COOKE A, COLGAN J M,

EVANS T J, and FERGUSON-SMITH M ALocalisation of the gene for congenitaladrenal hypoplasia 241 abst

see also AITKEN D A et alCONNOR J M et alFRYER A E et alGILLARD E F et alGOUDIE D R et al

YIP M-Y, SELIKOWITZ M, DON N, KOVACIC A, PURVIS-SMITH S, and LAM-PO-TANG P R L Deletion15q21- 1-22-1 resulting from a paternalinsertion into chromosome 5: case report 709

YORSTON L see CHANDLEY A C et alYOUNG E P see YOUNG I D et alYOUNG I D Craniofrontonasal dysplasia: syndrome of the

month 193CLARKE M Lethal malformations and perinatal

mortality: a 10 year review 639 abstFIELDER A R, and SIMPSON K Microcephaly, micro-

phthalmos, and retinal folds: report of a

family: case report 172MADDERS D J Unknown syndrome: holoprosencephaly,

congenital heart defects, and polydactyly:dysmorphology short report 714

MOORE J R Intrafamilial variation in Cohen syndrome488

806

Author index

SIMPSON K Unknown syndrome: abnormal facies,congenital heart defects, hypothyroidism.and severe retardation: dysmorphology shortreport 715

THOMPSON E M, HALL C M, and PEMBREY M EOsteogenesis imperfecta type IIA: evidencefor dominant inheritance 386

YOUNG E P, MOSSMAN J, FIELDER A R, and MOORE J RNeuraminidase deficiency: case report andreview of the phenotype 283

see also DALGLEISH R et alDUCKETT D P and YOUNG I DMATTHEWS S et alMEHTA L et alTHOMPSON E M et alQUARRELL 0 W J et al

YOVICH J, MULCAHY M, and MATSON P IVF and Golden-har syndrome: correspondence 644

ZACKAI E H see DONNENFELD A E et alZAHED L see MURER-ORLANDO M et alZAHRAN M see FARAG T I et al

807

ZENG Y-T and HUANG S-Z Disorders of haemoglobin inChina 578

ZHANG M-L, REN Z-R, CHEN S-R, WANG H-L, WANGZ-Y, and TONG J-H Prenatal diagnosis ofhaemophilia B in the first trimester: shortreport 632

ZHANG M-L see ZENG Y-T et alZHANG Q-H see Hu D-N et alZHOU F see Hu D-N et alZHOU X see YAN Z-A et alZILBERMAN Y see ZLOTOGORA J et alZLOTOGORA J, ZILBERMAN Y, TENENBAUM A, and

WEXLER M R Cleft lip and palate, pili torti,malformed ears, partial syndactyly of fingersand toes, and mental retardation: a newsyndrome? 291

ZONANA J see LUNT P W et alZUFFARDI 0, GARGANTINI L, LAMBIASE S, CURTO F L,MARASCHIO P, and FORD C E Presumptivemosaic origin of an XX/XY female withambiguous genitalia: case report 177

see also PONzIo G et al

SUBJECT INDEX TO VOLUME 24

Note: All notices for conferences, symposia, and meetings are under one heading: ANNOUNCEMENTS

Abortions, spontaneous, and trisomy 13 721Absent radius, thrombocytopenia and absent radius

(TAR) syndrome: syndrome of the month79

Adenosine deaminase gene locus, new assignment tochromosome 20q13-11, study with interstitialdeletion 20q 93

Adrenal cortical carcinoma, with malignant melanoma664

Adult polycystic kidney disease: editorial 449and chromosome 16, genetic linkage 457and linked RFLPs at a globin locus, genetic study, South

Wales 466Afrikaner population, HLA linked iron loading gene 348Age at onset, in multiple endocrine neoplasia, type 2a

(MEN 2a), implications for screening237 abst

Alagille syndrome (arteriohepatic dysplasia): syndrome ofthe month 621

Alpha, antitrypsindeficiency, prenatal diagnosis, and estimates of fetal risk

for disease 52gene, DNA polymorphisms in pulmonary emphysema

47Alphafetoprotein in diagnosis and screening 124Alpha globin locus, human, high resolution gene mapping

39Amniocentesis

or chorionic villus biopsy, in prenatal diagnosis ofDown's syndrome, value assessments636 abst

genetic, midtrimester, Eastern Ontario: review from1970 to 1985 335

Amniotic fluid steroid analysis, reliability in prenataldiagnosis of congenital adrenal hyperplasia344

Anal anomalies, congenital, in two families with Opitz Gsyndrome 688

Anderson-Fabry disease gene, use of closely linked RFLPsto detect 635 abst

Angelman (happy puppet) syndrome in a girl and herbrother 294

Aniridia-Wilms' tumour, G and R banding of 1 lp deletions:technical note 114

ANNOUNCEMENTSBoerhaave Course, Past, present and future of human

genetics, October 1987 648British Society for Developmental Biology, Spring

meeting, Oxford, March 1987 192Clinical Genetics Society, joint meeting with Skeletal

Dysplasia Society, November 1987, London 512Course on Twin Methodology, Belgium, August 1987

512

Current Clinical Management of Cystic Fibrosis, meeting,February 1987, Manchester 128

Ecological Genetics Group, 31st meeting, Edinburgh,April 1987 192

First European Multidisciplinary Conference on Ageing,September 1987, Brighton 128

First International Breast Cancer ChemopreventionWorkshop-Conference, November 1987, New YorkCity 512

Genetical Society, 206th Meeting, Aberystwyth, April1987 192: 207th meeting, November 1987, London192: 208th meeting, April 1988, Norwich 192: 209thmeeting, London, November 1988 192

Human Genetics, present and future, British CouncilCourse, April 1987, Oxford 128

VII International Congress on Neuromuscular Diseases(NMDVII), Munich, September 1990 192

International Symposium BIIOTECH RIA 87, Rome,April 1987 192

Intrauterine Diagnosis and Treatment: the New Frontier,conference, San Diego, California, April 1987 128

Medical Genetics, 1987, course, May 1987, Rockville,Maryland 256

Molecular Mapping of the Mouse Genome, InternationalMeeting, September 1987, Paris 128

National Society of Genetic Counsellors EducationConference, October 1987, San Diego, California512

Ninth International Workshop onHuman Gene Mapping,September 1987, Paris 128

South African Society of Human Genetics Congress,second annual congress, Cape Town, September 1988648

Trends in European Multiple Sclerosis Research, con-ference, September, France 128

Arteriohepatic dysplasia (Alagille syndrome): syndrome ofthe month 621

Ataxia telangiectasia, variant forms 669Atlanta, pyloriestenosis incidence, trends, 1968 to 1982

482

Becker muscular dystrophyDNA deletion screening 243 abstlinkage analysis and genetic counselling 152value of determining male and female mutation rates

using RFLPs 244 abstBehaviour

disorder in monosomy 10qter: short report 185genetics, human, research strategies 129

Belgium, recent survey of predictive testing in Huntington'schorea 275

Berlin nomenclature for inherited disorders of connectivetissue 634 abst

808 9

Subject index

Beta thalassaemiahigh frequency in a small island population in Melanesia

357mutations in Turkish population: short report 378

Birth Defects Conference, second, Manchester, October1986: conference report 505

Blepharophimosis, and mental retardation: correspondence511

Bonedysplasia, generalised, and partial trisomy 17q, in 12

week fetus: case report 502marrow function and quality after transplantation, cyto-

genetic monitoring 638 abstBOOK REVIEWS

BECK F, MOFFAT D B, and DAVIES D P Humanembryology. The development of structure andfunction, 2nd edition, 1985 254

BODMER W F, WEISS R, and WYKE J editors:Oncogenes: their role in normal and malignantgrowth, 1985 445

BORGAONKAR D S editor: Chromosomal variation inman: a catalog of chromosomal variants andanomalies. 4th edition, 1984 645

BRAMBATI B, SIMONI G, and FABRO S Chorionic villussampling. Fetal diagnosis of genetic disease in thefirst trimester, 1986 576

BRINSTER R L et al editors: The Harvey Lectures, 1986646

CAMPBELL et al editors: Annual review of genetics,1985 125

THE CIBA FOUNDATION Human embryo research: yes

or no?, 1986 789COHEN M M editor: Craniostenosis: diagnosis, evalu-

ation, and management, 1986 718CONNOR J M and YATES J R W Self-assessment in

medical genetics, 1986 574DEMIRJAN A editor: Human growth: a multidisciplinary

review, 1986 446EMERSON C, FISCHMAN D, NADAL-GINARD B, and

SIDDIQUI M A Q editors: Molecular biology ofmuscle development, 1986 790

EMERY A E H Methodology in medical genetics, 2ndedition, 1986 791

EPSTEIN C J editor: The neurobiology of Down syn-

drome, 1986 790FILKINS K and Russo J F editors: Human prenatal

diagnosis, 1985 445FRASER F C and NORA J J Genetics of man, 1986 446GALE R P and GOLDE D W editors: Leukemia: recent

advances in biology and treatment, 1985 448GARVER K L and MARCHESE S G Genetic counselling

for clinicians, 1986 317GATTI R A and SwIFr M editors: Ataxia telangiectasia:

genetics, neuropathology, and immunology of a

degenerative disease of childhood, 1985 317HALVORSON H 0 and MONROY A editors: The origin

and evolution of sex, 1985 127HARRIS H and HIRSCHORN K editors: Advances in

human genetics, volume 15, 1986 318HONIG G R and ADAMS J G Human hemoglobin

genetics, 1986 318

JAMES N Spina bifida in South Wales. Can it be pre-vented? The Mainwaring-Hughes Award seriesNo 2, 1985 320

JOHNSON D R The genetics of the skeleton, 1986 717KALOW W, GOEDDE H W, and AGARWAL D P editors:

Ethnic differences in reactions to drugs andxenobiotics. Progress in clinical and biologicalresearch, volume 214, 1986 574

KALTER H editor: Issues and reviews in teratology,volume 3, 1985 255

KEVLES D J In the name of eugenics, 1986 576KING R C and STANSFIELD W D A dictionary of gene-

tics, 1985 190KRIVIT W and PAUL N W editors: Bone marrow trans-

plantation for treatment of lysosomal storagediseases, 1986 319

LASKER G W Surnames and genetic structure, 1985191

McKusICK V A Mendelian inheritance in man. 7thedition, 1986 719

MILUNSKY A and ANNAS G J editors: Genetics and thelaw III, 1985 717

MULLER H and WEBER W editors: Familial cancer,1985 190

OLIVER S G and WARD J M A dictionary of geneticengineering, 1985 717

OPITZ J M, REYNOLDS J F, and SPANO L M editors:X-linked mental retardation 2, 1986 647

PAPADATOS C J and BARTSOCAS C S editors: Endocrinegenetics and genetics of growth. Progress inClinical and Biological Research Volume 200,1985 254

PESCIA G and THE H N editors: KELLER P J serieseditor: Chorionic villi sampling. Contributions toobstetrics and gynaecology No 15, 1986 720

PTASHNE M A genetic switch: gene control and phageX, 1986 789

PUErr D et al editors: Advances in gene technology:molecular biology of the endocrine system, 1986790

RENNIE W A editor: Goldberg's genetic and meta-bolic eye disease, 1986 445

RICCARDI V M and EICHNER J E Neurofibromatosis:phenotype, natural history and pathogenesis,1986 574

ROBINSON J P Chemical warfare arms control: aframework for considering policy alternatives,1985 255

ROONEY D E and CZEPULKOWSKI B H editors: Humancytogenetics: a practical approach, 1986 447

ROSENBERG R N Neurogenetics: principles and prac-tice, 1985 125

SCANU A M and SPEcrOR A M editors: Biochemistryand biology of plasma lipoproteins, 1986 719

SHAY J W editor: Cell and molecular biology of thecytoskeleton, 1986 718

SORSA M and NORPPA H editors: Monitoring of occu-pational genotoxicants. Progress in clinical andbiological research, volume 207, 1986 645

THERMAN E Human chromosomes. Structure, be-haviour, effects, 1986 447

THOMAS S Genetic risk, 1986 646

809

Subject index

WEATHERALL D J The new genetics and clinicalpractice. 2nd edition, 1986 126

WHIrrAKER M Cholinesterase, 1986 575Brachmann-de Lange syndrome in sibs: case report 627Brachydactyly and cone shaped epiphyses, associated with

spastic paraplegia: case report 702Bridging markers, defining map position of X linked

hypophosphataemic rickets 756Bulbospinal neuropathy, X linked, South Wales kindred

640 abst

Carrier detection in ornithine carbamoyl transferasedeficiency 635 abst

cDNA probe for von Willebrand factor 245 abstCharcot-Marie-Tooth disease

genetic linkage studies, failure to demonstrate linkagerelationships to chromosome 1 markers241 abst

X linked, on proximal Xq, gene for, sequence of DNAprobes 639 abst

Chinadeaf mutism, prevalence and genetic aspects 589disorders of haemoglobin 578major genetic eye diseases, prevalence and mode of

inheritance 584medical genetics: editorial 577

Chondrosarcoma, with malignant melanoma 664Chorionic villus

biopsy or amniocentesis, in prenatal diagnosis of Down'ssyndrome, value assessments 636 abst

sampling (CVS), in Fanconi anaemia 245 abstChromosomes, abnormalities, general

centromeric regions, detection by immunofluorescence,procedure and application: short communi-cation 498

fragile X, meiosis 641 abstsyndrome, linkage analysis using cX55-7 (DXSJ05)

635 abstsee also fragile X syndrome

parental, associated with hydatidiform mole 613ring XY bivalent, new phenomenon at metaphase I of

meiosis, man 101sperm, application of image-analysis techniques for

study 242 abstspontaneous and induced, in germ cells of mammals and

man 314supplement, to London Dysmorphology Database: short

communication 497: correspondence 509translocation, map of oncogenes: short communication

111Chromosome, abnormalities, specific

1, pericentric inversion, and risk for male sterility 325lp, depletion, interstitial, in a 30 year old woman: case

report 229inv(1)(p32- q42), loop formation without synapsis,

infertile male 641 abst1, trisomy in an eight cell human pre-embryo 60fra(2)(ql3), inheritance, fragile sites, apparent absence

in parents of three unrelated probands 678inv(2)(pl3q25) pericentric inversion, loop formation,

size of inverted segment and heterochromatinfor 641 abst

2q+, de novo, masquerading as Smith-Lemli-Opitzsyndrome: case report 436

3p;8p, translocation, unbalanced, de novo, resulting inpartial dup(3p) and partial del(8p): casereport 174

3pl4, common fragile site, effect of hydroxyurea 5933q, de novo interstitial deletion: case report 3054, short arm, Wolf-Hirschhorn locus distal to D4SJO

410inv(5)(pl5q22), del(5)(p15), inversion, de novo in cri du

chat syndrome: short report 1865, ring, clinical and cytogenetic findings in two families

638 abstSq, trisomy, clinical manifestations: case report 1806, molecular genetics: gene mapping and medical

genetics 6496q, partial monosomy, secondary to maternal direct

insertional event: case report 2276q, partial trisomy: case report with necropsy findings

3007q32--qter deletion, lethal presentation: case report

6298, DNA markers, linkage analysis of peripheral neuro-

fibromatosis 532t(8;15)(p23-3;q22-3) familial, two cases with dup(15)

(q22-3-*qter) 6849p trisomy, due to unequal sister chromatid exchange:

case report 30310q23, folate sensitive site, and its expression as a

deletion: short communication 29910qter, monosomy, behaviour disorder in: short report

185lip, G and R banding, deletions in aniridia-Wilms'

tumour: technical note 11411q23, rearrangements, and null acute lymphoblastic

leukaemia, question of association 638 abst12, homozygous paracentric inversion, in mentally

retarded boy 248 abst12p, mosaic tetrasomy, clinical, cytogenetic, bio-

chemical, and molecular investigation240 abst

12pl3-1 13-3, partial monosomy: case report 43412q, multiple malformation syndrome including cleft lip

and palate and cardiac abnormalities due toan interstitial deletion: short report 187

del(13)(q21-3q31), interstitial, associated with psycho-motor retardation, eczema, and absent suckand swallowing reflex: case report 786

13, intrachromosomal insertion, in family with psychosisand mental subnormality 248 abst

(13)(q13qI4-3) deletion, with retinoblastoma: casereport 696

13, trisomy, ascertained in survey of spontaneousabortions 721

13, trisomy, cytogenetic and molecular studies 72513, trisomy, monozygotic twins discordant for major

congenital anomalies: case report 50014q, distal trisomy: short report 38014(q31-qter) duplication: case report 37215q2I1-q22-1, deletion, resulting from paternal

insertion into chromosome 5: case report709

810

Subject index

16, and adult polycystic kidney disease, genetic linkage457

16, human a globin locus, high resolution gene mapping39

16, molecular genetics: gene mapping and medicalgenetics 451

16, new variant 248 abst16q deletion, confirmation in dysmorphic child by flow

karyotype analysis 8816q, interstitial deletion and ring: case report 30817q, partial trisomy, and generalised bone dysplasia, in

12 week fetus: case report 50218q- syndrome, and extraskeletal Ewing's sarcoma:

case report 42620q13-11, ADA assignment to, after study with inter-

stitial deletion 20q 9320, ring, phenotype: case report 37521, molecular genetics: gene mapping and medical

genetics 25721, ring, causing monosomy 21 639 abst21, partial deletion: case report with biochemical studies

and review 70621, trisomy structural rearrangements in parents of

children with 28022, gene mapping and medical genetics 6545,XX,-3,-22,+der(3),t(3;22)(p25;qll), with features

of DiGeorge syndrome: case report 22546,X,+mar fetus, with apparently normal male genitalia,

ultrasound identification: case report 78246,XX/46,XY dispermic chimerism, in unilateral true

hermaphrodite: case report 78446,XY,inv(1)(p36-3q12), pericentric inversion and

sterility: correspondence 51048,XX,idic(Yq),idic(Yq), phenotype-genotype studies

637 abst49,XXXYY karyotype, mentally retarded male

248 abstX, breakpoint near Duchenne muscular dystrophy locus,

molecular and cytogenetic evaluation245 abst

X, folate sensitive fragile sites 242 abstX, fragile X syndrome in large family, I Cytogenetic and

clinical investigations 23: II Psychologicalinvestigations 32

X, fragile X syndrome, linkage analysis using multipleXq DNA polymorphisms 14

X, isodicentric, with short arm fusion, without somaticfeatures of Turner's syndrome: case report428

X, recombinant, in short stature, girl, resulting frommaternal pericentric inversion 639 abst

t(X;10)mat, translocation, with congenital abnormalities:short report 633

X update: conference report 188X;13, translocation, with retinoblastoma: case report

431Xq27, fragile site, investigation with DNA markers

413Xq27-3 fragile site, pulsed field gel analysis 637 abst'XX' males, localisation of Y chromosome sequences

197

XXX carrier in family with two balanced translocations,three unbalanced segregants 247 abst

XX/XY female with ambiguous genitalia, presumptivemosaic origin: case report 177

X;Y translocation, and prenatal detection of malepseudohermaphrodite 248 abst

Y, localisation, in normal and 'XX' males 197Cleft lipand palate, pili torti, malformed ears, partial syndactyly

of fingers and toes, and mental retardation,new syndrome 291

with or without cleft palate, identification of sporadiccases with high level of genetic predisposition163

linkage in large family segregating for 242 abstClinical Genetics Society, meetings London, December

1986, abstracts 235: University of Leicester,April 1987, abstracts 634

Cohen syndrome, intrafamilial variation 488Collagen

genes, a2(I) and al(III), exclusion as mutant loci in aMarfan syndrome family 148

genetic disorders: review article 2Common fragile site at 3pl4, effect of hydroxyurea 593Complement C4 genes and 21-hydroxylase genes, poly-

morphism in congenital adrenal hyperplasia640 abst

Cone shaped epiphyses, and brachydactyly, associatedwith spastic paraplegia: case report 702

Congenital adrenal hyperplasiapolymorphism of complement C4 genes and 21-

hydroxylase genes 640 abstprenatal diagnosis, reliability of amniotic fluid steroid

analysis 344localisation of gene 241 abst

Congenital cutis laxa, with retardation of growth anddevelopment 556

Congenital heart defectshypothyroidism, severe retardation, and abnormal facies,

unknown syndrome: dysmorphology shortreport 715

polydactyly, and holoprosencephaly, unknown syn-drome: dysmorphology short report 714

Congenital malformations, mortality due to, consanguinitycontributing to, analysis of perinatal mortalityby ethnic group 241 abst

Connective tissue, inherited disorders, Berlin nomenclature634 abst

Consanguinity, contributing to mortality due to congenitalmalformations, analysis of perinatal mortalityby ethnic group 241 abst

Corpus callosum, agenesis, and polycystic kidneys, andorofaciodigital syndrome type I: case report116

Correction: Carrier detection and prenatal diagnosis in Xlinked muscular dystrophy using restrictionfragment length polymorphisms, Lindlofet al, December 1986, 560-72, 171

CORRESPONDENCEIVF and Goldenhar syndrome 644Mental retardation with blepharophimosis 511Pericentric inversion and sterility 510

811

Subject index

The craniocardioskeletal syndrome and the Noonan-like short stature syndrome are possibly thesame entity 510

The London Dysmorphology Database 509Craniocardioskeletal syndrome and Noonan-like short

stature syndrome, possibly the same entity:correspondence 510

Craniofrontonasal dysplasia: syndrome of the month 193Cri du chat syndrome, and de novo inv(5)(pl5q22),

del(5)(pl5): short report 186Cystic fibrosisDNA probes, early experience 239 abstexperience of offering a service for prenatal diagnosis by

DNA analysis 634 abstfamily at risk, urgent use of DNA typing to avoid

prenatal diagnosis 244 abstRFLP analysis in diagnosis 239 abst

Cytogenetics, clinical: conference report 250

De novo interstitial deletion 3q: case report 305Deaf mutism, prevalence and genetic aspects, Shanghai,

China 589Deletion

lp, interstitial, in 30 year old woman: case report 2293q, interstitial: case report 305del(13)(q21-3q31) associated with psychomotor retar-

dation, eczema, and absent suck and swallow-ing reflex: case report 786

(13)(ql3ql4.3) with retinoblastoma: case report 69615q2l 1-1q22-1 resulting from paternal insertion into

chromosome 5: case report 70916q, interstitial, and ring chromosome derived from 16q:

case report 30821, partial, chromosome: case report with biochemical

studies and review 706DiGeorge syndrome, with 45,XX,-3,-22,+der(3),t(3;22)

(p25;qll): case report 225Distal symphalangism with involvement of thumbs and big

toes 640 abstDNA

analysis in risk estimation for common genetic disorders238 abst

deletion screening, in Duchenne and Becker musculardystrophy 243 abst

linkage analysis, in Von Recklinghausen neurofibro-matosis 529

mitochondrial, in mitochondrial myopathy, restrictionenzyme analysis 243 abst

polymorphism, Duchenne and Becker muscular dys-trophy, and genetic counselling 152

of human a1 antitrypsin gene in pulmonaryemphysema 47

multiallelic, in high resolution gene mapping ofhuman a globin locus 39

multiple Xq, linkage analysis using 14second, identification, in human low density lipo-

protein receptor gene 242 absttuberous sclerosis locus linkage, detected by v-abl

544in Van der Woude syndrome 160see also Restriction fragment length polymorphisms

probes (markers) on chromosome 8, linkage analysisof peripheral neurofibromatosis 532

in cystic fibrosis, early experience 239 abstDuchenne muscular dystrophy, impact on repro-

ductive decisions 238 abstin fragile X syndrome 413and gene for X linked Charcot-Marie-Tooth disease

on proximal Xq, sequence 639 abstG8, Wolf-Hirschhorn syndrome, locus distal to D4S10

410in Huntington's chorea 239 abstin myotonic dystrophy, and counselling 239 abst

typing, urgent use to avoid prenatal diagnosis in familyat risk of cystic fibrosis 244 abst

Down's syndromeand congenital non-chylous pleural effusion: case report

567prenatal diagnosis by chorionic villus biopsy or amnio-

centesis, value assessments 636 abstDuchenne muscular dystrophyDNA deletion screening 243 abstDNA probes, impact on reproductive decisions

238 abstlinkage analysis and genetic counselling 152locus, X chromosome breakpoint, molecular and cyto-

genetic evaluation 245value of determining male and female mutation rates

using RFLPs 244 abst

Ectodermal dysplasia and clefting, autosomal dominantsyndrome 247 abst

Ectrodactyly, in sisters and half sisters 220Eczema, psychomotor retardation, and absent suck and

swallowing reflex, and interstitial del(13)(q21-3q31): case report 786

Ehlers-Danlos syndrome type IV, dominant, caused byshortened mRNA type III collagen 636abst

Ehlers-Danlos syndrome type VII, due to deletion of 24amino acids from the proal(I) chain oftype I procollagen, clinical features: casereport 698

Emery-Dreifuss muscular dystrophy, further linkageanalysis 244 abst

Endocardial fibroelastosis, possible X linked inheritance210

Epiphyseal dysplasia of femoral head, mild vertebralabnormality, myopia, and sensorineuraldeafness: report of pedigree with autosomaldominant inheritance 602

Ethical practices: conference report 251Ethics, medical, Royal College of Physicians Conference,

October 1986: conference report 251Ewing's sarcoma, extraskeletal, and 18q- syndrome:

case report 426Exclusion mapping 539Eye diseases, major genetic, prevalence and mode of

inheritance, China 584

Facies, abnormal, congenital heart defects, hypothyroidism,and severe retardation, unknown syndrome:dysmorphology, short report 715

812

Subject index

Fanconi anaemia, chorionic villus sampling 245 abstFG syndrome: syndrome of the month 139Finland, polycystic kidney disease, genetic and epide-

miological study, 82 children 474Flow karyotype analysis in dysmorphic child, confirmation

of suspected 16q deletion 88Folate sensitive fragile sites on X chromosome 242 abstFolate sensitive site at '10q23 and its expression as a

deletion: short communication 299Fragile sites

folate sensitive, on X chromosome 242 abstinheritance, apparent absence of fra(2)(q13), in parents

of three unrelated probands 678and null acute lymphoblastic leukaemia, question of

association 638 abstFragile X mental retardation gene, generation, population

genetics implications of premutation hypo-thesis 240 abst

mental retardation syndrome, and meiosis 641 abstX syndrome, investigations on linkage of flanking DNA

markers with fragile site Xq27 413in large family, I Cytogenetic and clinical investi-

gations 23: II Psychological investigations32

linkage analysis, using cX55-7 (DXSJO5) 635 abstusing multiple Xq DNA polymorphisms 14

at Xq27-3, pulsed field gel analysis 637 abstFraser syndrome, clinical spectrum, three new cases and

review 549Frontonasal dysplasia associated with tetralogy of Fallot

107Fryns syndrome, variable MCA syndrome with diaphrag-

matic defects, coarse face, and distal limbhypoplasia: syndrome of the month 271

Gene mappingexclusion 539high resolution, of human a globin locus 39and medical genetics: Molecular genetics of human

chromosome 21 257and neurogenetics: editorial 513

Genetic(s)contribution to clinical management in neonatal period,

audit 238 abstclinical, training course for senior registrars: conference

report 383counselling, in Duchenne and Becker muscular dys-

trophy, linkage analysis 152diseases, new prospects, Conference, Royal College of

Physicians, December 1986: conferencereport 642

disorders, childhood, and inbreeding, incidence ofKarnataka, South India 362

human, Seventh International Congress, Berlin: con-ference reports 250, 313, 382

medical, in China: editorial 577teaching in Britain 637 abst

Goldenhar syndromeand in vitro fertilisation: correspondence 644and overlapping dysplasias, in vitro fertilisation and

ovopathy: hypothesis 616

Grampian Region, prevalence of Huntington's chorea243 abst

Haemoglobindisorders, China 578E with MnJI, direct detection: short communication

110H disease, non-deletion, Papua New Guinea 767variants, inherited, South Africa 215

Haemophilia Aprobes for carrier detection and early prenatal diagnosis

246 abstrecombination between DX13 and5t14 in a family

640 abstHaemophilia B, prenatal diagnosis in first trimester: short

report 632Handicapped school leavers, 80, follow up study, inter-

viewed five to seven years after geneticcounselling 241 abst

Happy puppet syndrome see Angelman syndromeHermaphrodite, unilateral true, with 46,XX/46,XY

dispermic chimerism: case report 784HLA linked iron loading gene, Afrikaner population 348Hodgkin's disease, new case of (Y;1) balanced reciprocal

translocation in an infertile man: short report379

Holoprosencephaly, congenital heart defects, and poly-dactyly, unknown syndrome: dysmorphologyshort report 714

Huntington's disease (chorea)attitudes towards predictive testing, recent survey,

Belgium 275DNA probes 239 abstGrampian Region, prevalence 243 abst

Hybridisation maps 1 kb single copy gene, non-radioactivein situ 637 abst

Hydatidiform mole, parental chromosome aberrations inpartial and complete moles 613

Hydrocephalus, X linked, without aqueductal stenosis,prenatal diagnosis 207

21-Hydroxylase genes and complement C4 genes, poly-morphism in congenital adrenal hyperplasia640 abst

Hydroxyurea, effect on expression of common fragile siteat 3pl4 593

Hypercholesterolaemia, familial haplotype, associations ofthree DNA polymorphisms at human lowdensity lipoprotein receptor gene locus 750

Hyperthermia as a teratogen 636 abstHypertrophic cardiomyopathy, prevalence in Northern

Region 243 abstHypohidrotic ectodermal dysplasia: syndrome of the

month 659Hypomelanosis of Itoand diploid/triploidy 240 abststudies on origin 240 abst

Hypoplastic tibiae with postaxial polysyndactyly, newdominant syndrome: case report 369

Hypothyroidism, severe retardation, abnormal facies, andcongenital heart defects, unknown syndrome:dysmorphology short report 715

813

Subject index

Ichthyosis, X linked, characterisation of polymorphicprobe which detects deletions in males635 abst

In vitro fertilisation and Goldenhar syndrome: corre-spondence 644

Inbreeding and incidence of childhood genetic disorders,Karnataka, South India 362

Incontinentia pigpventi, in Klinefelter's syndrome: casereport 439

India, Karnataka, inbreeding and incidence of childhoodgenetic disorders 362

Inflammatory bowel disease, sulphasalazine causingchromosome changes 244 abst

Inherited disorders of connective tissue, Berlin nomen-clature 634 abst

IVF see In vitro fertilisation

Journal of Medical Genetics becomes a monthly journal:editorial 1

Klinefelter's syndrome, and incontinentia pigmenti: casereport 439

Kniest disease, Arab family with some features 597

Lebanon, thalassaemic children, psychosocial andeconomic profile of families 772

Lethal malformations and perinatal mortality, 10 yearreview 639 abst

Leukaemia, null acute lymphoblastic, with chromosomerearrangements at 11q23, question ofassociation 638 abst

Limb, distal, reduction anomalies, with congenital scalpdefects: syndrome of the month 493

Linkage analysisand genetic counselling, in Duchenne and Becker

muscular dystrophy 152using multiple Xq DNA polymorphisms 14in Van der Woude syndrome 160

Lipoprotein, low density, receptor gene, human, identifi-cation of deletions 144

London Dysmorphology Database, chromosome supple-ment: short communication 497: corre-spondence 509

Loop formation in pericentric inversion, size of invertedsegment and heterochromatin for 641 abst

Loop formation without proper synapsis, in inv(1)(p32--q42) infertile human male 641 abst

Low density lipoprotein receptor genehuman, identification of deletions 144identification of second DNA polymorphism 242 abstlocus at RFLP, in familial hypercholesterolaemia 750

Lymphocyte culture technique, improved, deoxycytidinerelease of thymidine block and use ofconstant humidity chamber for slide making:technical note 113

Lymphoedema, primary, with distichiasis, defined asbilateral hyperplasia by lymphography 170

Mappinghuman a globin gene complex to 16pl3-2-*pter 761'X linked hypophosphataemic rickets 756see also Gene mapping

Marfan syndromefamily, exclusion of a2(I) and al(III) collagen genes as

mutant loci 148testing candidate genes 247 abst

Markers, nearby, in prediction of recessive phenotype636 abst

Meiosisin fragile X mental retardation syndrome 641 abstphenomenon, ring XY bivalent at metaphase I 101

Melanesia, small island population, high frequency of ithalassaemia 357

Melanoma, malignant, in families of children with osteo-sarcoma, chondrosarcoma, and adrenalcortical carcinoma 664

Mental retardation with blepharophimosis: corres-pondence 511

Microcephalymicrophthalmos, and retinal folds: case report 172severe congenital, sibs with, retarded growth and

multiple chromosome mosaicism 246 abstMicrophthalmos, microcephaly, and retinal folds- case

report 172 !Miller syndrome (postaxial acrofacial dysostosif 1: syn-

drome of the month 422Mitochondrial myopathy, restriction enzyme antlysis of

mitochondrial DNA 243 abstMolecular genetics: Conference report, Seventh Inter-

national Congress of Human Genetics 123Molecular genetics of human chromosome 21 257Monosomy

partial, 6q secondary to maternal direct insertionalevent: case report 227

12pl3-1*13-3: case report 43410qter, behaviour disorder in: short report 18521, due to ring chromosome 21, mildly affected patient

639 abstMortality perinatal

analysis by ethnic group, does consanguinity contributeto mortality due to congenital malformations241 abst

and lethal malformations, 10 year review 639 abstMosaic tetrasomy 12p, clinical, cytogenetic, biochemical,

and molecular investigation 240 abstMultiple Endocrine Neoplasia Type 2 (MEN 2), Second

International Workshop, Cambridge,September 1986: conference report 507

Multiple endocrine neoplasia, type 2a (MEN 2a), age atonset, implications for screening 237 abst

Multiple pterygium syndrome, evolution of phenotype733

Muscular dystrophy, Duchenne or Becker, linkage analysisand genetic counselling 152

see also Becker: Duchenne: Emery-DreifussMyotonias, non-progressive, clinical and genetical aspects

634 abstMyotonic dystrophy, DNA probes, and counselling 239

abst

Neoplasia, cytogenetics and molecular genetics: con-ference report 188

Neural tube defects, sex and cause 238 abst

814

Subject index

Neuraminidase deficiency, case report and review ofphenotype 283

Neurofibromatosisgenetic linkage studies, analysis 526

peripheral 530peripheral, to DNA markers on chromosome 8 532progress in mapping the disease locus 246 abstquestion of heterogeneity 527to RFLPs, genomic search 536

segmental, unusual case 247 abstVon Recklinghausen see Von Recklinghausen neuro-

fibromatosisNeurofibromatous neuropathy 237 abstNeurogenetics, and gene mapping: editorial 513Noonan-like short stature syndrome and craniocardio-

skeletal syndrome, possibly the same entity:correspondence 510

Noonan syndrome: syndrome of the month 9

OBrrUARYDr John Alexander Fraser Roberts, CBE, FRS, MA, DSc,

MD, FRCP, FRCPsych 442Oculocerebral hypopigmentation syndrome: case report

with clinical, histochemical, and ultra-structural findings 118

Oculocerebrocutaneous syndrome 634 abstOncogenes, translocation chromosome map: short com-

munication 111Ontario, midtrimester genetic amniocentesis: review from

1970 to 1985 335Opitz G syndrome, with congenital anal anomalies, in two

families 688Ornithine carbamoyl transferase deficiency, carrier detec-

tion 635 abstOrofaciodigital syndrome type I associated with polycystic

kidneys and agenesis of corpus callosum:case report 116

Orofaciodigital syndrome type I, familial, presenting asadult polycystic kidney disease 84

Osteogenesis imperfectaeditorial 385(OI type IV), prenatal prediction, exclusion of inheri-

tance using collagen gene probe 406severe, sporadic, recurrence risks and prognosis 390type IIA, evidence for dominant inheritance 386

Osteosarcoma, with malignant melanoma 664

Papua New Guinea, non-deletion haemoglobin H disease767

Pericentric inversionin human chromosome 1, and risk for male sterility 325and sterility: correspondence 510

Perinatal mortality,analysis by ethnic group, does consanguinity contribute

to mortality due to congenital malformations241 abst

and lethal malformations, 10 year review 639 abstPiebald trait, homozygosity in: case report 568Pleural effusion, congenital non-chylous, with Down's

syndrome: case report 567Plot 2000, universal pedigree plotting programme 246

abst

Polycystic kidneysand agenesis of corpus callosum, and orofaciodigital

syndrome type I: case report 116disease, adult: editorial 449

adult, and chromosome 16, genetic linkage 457familial orofaciodigital syndrome type I presenting

as 84and linked RFLPs, at a globin locus, genetic study,

South Wales 466autosomal dominant, localisation of mutation pro-

ducing, without renal failure 462children, genetic and epidemiological study, Finland

474Polydactyly, holoprosencephaly, and congenital heart

defects, unknown sydrome: dysmorphology,short report 714

Polymorphic probe, characterisation which detects deletionsin males with X-linked ichthyosis at highfrequency 635 abst

see also DNA polymorphisms: Restriction fragmentlength polymorphisms

Polysyndactyly, postaxial, with hypoplastic tibiae, newdominant syndrome: case report 369

Postaxial acrofacial dysostosis (Miller) syndrome: syn-drome of the month 422

Prenatal diagnosisof a, antitrypsin deficiency and estimates of fetal risk for

disease 52t3 thalassaemia mutations in Sardinians 97

PRUFILE, microcomputer database for clinical genetics245 abst

Pseudohermaphrodite, male, resulting from an X;Y trans-location 248 abst

Psychomotor retardation, eczema, and absent suck andswallowing reflex, and interstitial del(13)(q21-3q31): case report 786

Pulmonary emphysema, DNA polymorphisms of humana1antitrypsin gene 47

Pulsed field gel analysis around fragile site at Xq27-3 637abst

Pyle disase (metaphyseal dysplasia): syndrome of themonth 321

Pyloric stenosis incidence, trends, Atlanta, 1968 to 1982482

Radius, absent, and thrombocytopenia, syndrome: syn-drome of the month 79

Recessive phenotype, prediction from nearby marker636 abst

Research strategies in human behaviour genetics 129Restriction enzyme analysis of mitochondrial DNA in

mitochondrial myopathy 243 abstRestriction fragment length polymorphisms

at a globin locus, and adult polycystic kidney disease,genetic study, South Wales 466

closely linked, to detect the Anderson-Fabry diseasegene 635 abst

in cystic fibrosis diagnosis 239 abstat LDL receptor genes, familial hypercholesterolaemia

750linkage of neurofibromatosis, genomic search 536

815

Subject index

use to determine male and female mutation rates inDuchenne and Becker muscular dystrophy,value 244 abst

Retardation, severe, abnormal facies, hypothyroidism,and congenital heart defects, unknown syn-drome: dysmorphology short report 715

Retinal folds, microcephaly, and microphthalmos: casereport 172

Retinoblastoma, and chromosome deletion (13)(q13q14.3):case report 696

RFLP see Restriction fragment length polymorphismsRickets, hypophosphataemic, X linked, mapping 756Ring chromosomesand interstitial deletion, derived from 16q: case report

3085, clinical and cytogenetic findings in two families 638

abst20, phenotype: case report 37521, causing monosomy 21 639 abstXY bivalent, new phenomenon at metaphase I of

meiosis, man 101Risk estimation for common genetic disorders, DNA

analysis 238 abstRubinstein-Taybi syndrome: syndrome of the month 562

Sardinians, ,3 thalassaemia mutations, implications forprenatal diagnosis 97

Scalp defects, congenital, with distal limb reductionanomalies: syndrome of the month 493

Short staturewith associated features, especially epiphyseal dysplasia

602girl, recombinant X chromosome resulting from maternal

pericentric inversion 639 abstSmith-Lemli-Opitz syndrome, de novo 2q+ masquerading

as: case report 436Spastic paraplegia associated with brachydactyly, and cone

shaped epiphyses: case report 702Sperm chromosomes, study, application of image-analysis

techniques 242 abstSpondyloepimetaphyseal dwarfism, a 'new' dysplasia or

Kniest disease with autosomal recessiveinheritance 597

Spondyloepiphyseal dysplasia tarda, new autosomal reces-sive variant with mental retardation: casereport 366

Sterilitymale, risk with pericentric inversion in human chromo-

some 1 325and pericentric inversion: correspondence 510

Steroid sulphatase deficiency (X linked ichthyosis), local-isation of gene 239 abst.

Suck and swallowing reflex, absent, psychomotor retar-dation, and eczema, and interstitial del(13)(q21-3q31): case report 786

Sulphasalazine, causing chromosome changes in inflam-matory bowel disease 244 abst

Syndrome, new, cleft lip and palate, pili torti, malformedears, partial syndactyly of fingers and toes,and mental retardation 291

Tetra-amelia, with associated abnormalities 609

Tetralogy of Fallot, frontonasal dysplasia associated with107

Thalassaemia, beta, in Sardinians, implications for pre-natal diagnosis 97

Thalassaemic children, Lebanon, psychosocial andeconomic profile of families 772

Thoracic dysplasia, and communicating hydrocephalus,previously undescribed syndrome 204

Thrombocytopenia and absent radius (TAR) syndrome:syndrome of the month 79

Thymidine block for lymphocyte culture: technical note113

Training course for senior registrars in clinical genetics,Brindle Lodge, NWRHA, September 1986383

Translocationchromosome map of oncogenes: short communication

111de novo 3p;8p unbalanced, resulting in partial dup(3p)

and partial del(8p): case report 174familial t(8;15)(p23-3;q22-3), report of two cases with

dup(15)(q22-3-+qter) 684t(X;10)mat, with congenital abnormalities: short report

633X;13 with retinoblastoma: case report 431

Transplantation, bone marrow function and quality after,cytogenetic monitoring 638 abst

Trisomy1 in an eight cell human pre-embryo 605q, clinical manifestations: case report 1806q, partial: case report with necropsy findings 3008p, phenotypic features 247 abst9p, due to unequal sister chromatid exchange: case

report 30313, ascertained in survey of spontaneous abortions 72113, cytogenetic and molecular studies 72513, in monozygotic twins discordant for major congenital

anomalies: case report 50014q, distal: short report 38021, structural rearrangements in parents of children

with 280partial, 17q, and generalised bone dysplasia, in 12 week

fetus: case report 502Tuberous sclerosis

large family with no history of seizures or mentalretardation 547

linkage study 237 abstlocus, linkage to DNA polymorphism detected by

v-abl 544Turkish population, 0i thalassaemia mutations: short

report 378Turner's syndrome, isodicentric X chromosome with short

arm fusion without somatic features: casereport 428

Ulnar-mammary syndrome: syndrome of the month 778

Valproate syndrome, fetal, possible existence of recognis-able phenotype 692

Van der Woude syndrome, linkage studies 160Von Recklinghausen neurofibromatosisDNA linkage analysis 529

816

Subject index

exclusion map for 515first European Symposium: conference report 572gene, further exclusion data, genetic linkage study of 19

polymorphic markers 534and genetic linkage studies, clinical considerations 521linkage analysis, British and Indian families 524linkage study of candidate and random marker genes

522see also Neurofibromatosis

Wales, adult polycystic kidney disease and linked RFLPsat a globin locus, genetic study 466

Weaver syndrome, three year old girl: case report 232

817

Wolf-Hirschhorn locus, distal to D4S1O, on short arm ofchromosome 4 410

X linked conditionshypophosphataemia, further localisation of gene 242

absthypophosphataemic rickets, mapping 756ichthyosis, characterisation of polymorphic probe which

detects deletions in males 635 abstlocalisation of gene 239 abst

linkage analysis using multiple Xq DNA polymorphisms14