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TABLE 5-2 PARTIAL LIST OF CHROMOSOMAL GENETIC DISORDERS

DISORDER

GENETIC

ETIOLOGY

POSSIBLE

PERIODS OF

RECOGNITION MAJOR FINDINGS RESOURCES*

Angelman

syndrome

ChrDeletion,

uniparental disomy, or

abnormal methylation

of chromosome 15

Prenatal to early

childhood

Significant motor, cognitive, and

speech delays; microcephaly;

ataxia

www.geneclinics.org/profiles/angelman/details.html

http://ghr.nlm.nih.gov/condition=angelmansyndrome

www.angelman.org

Beckwith-

Wiedemann

syndrome

AD or ChrAbnormal

methylation of

chromosome 11,

uniparental disomy of

paternal chromosome

11, or structural

abnormality in critical

region

Prenatal to

newborn

Overgrowth syndrome; often

recognized in newborn period

due to abnormally large

tongue; abdominal wall

defects; hypoglycemia in

infancy

www.ncbi.nlm.nih.gov/bookshelf/br.

fcgi?book=gene&part=bws

http://ghr.nlm.nih.gov/condition=

beckwithwiedemannsyndrome

www.beckwith-wiedemann.info

Cri du chatsyndrome Chr46,XX,del(5p) or46,XY,del(5p) Prenatal tonewborn Microcephaly; high-pitched,catlike cry; significant motor

and cognitive delays

http://ghr.nlm.nih.gov/condition=criduchatsyndromewww.fivepminus.org

Down syndrome

(trisomy 21)

Chr47,XX,+21 or

47,XY,+21

Prenatal to

newborn

Mild to moderate cognitive

impairment, characteristic

facial features, hypotonia

http://ghr.nlm.nih.gov/condition=downsyndrome

http://aappolicy.aappublications.org/cgi/content/full/

pediatrics;107/2/442

www.ndss.org

www.nads.org

Edwards syndrome

(trisomy 18)

Chr47,XX,+18 or

47,XY,+18

Prenatal to

newborn

Multiple congenital anomalies;

significantly shortened life

span; if survival beyond 1 yr,

severe cognitive impairment

http://ghr.nlm.nih.gov/condition=trisomy18

www.trisomy18.org

Klinefelter

syndrome

Chr47,XXY Prenatal;

adolescence to

adulthood

Gynecomastia, small testes,

normal sex drive and function

but infertility common

http://ghr.nlm.nih.gov/condition=klinefeltersyndrome

Patau syndrome

(trisomy 13)

Chr47,XX,+13 or

47,XY,+13

Prenatal to

newborn

Multiple congenital anomalies;

significantly shortened life

span; if survival beyond 1 yr,

severe cognitive impairment

http://ghr.nlm.nih.gov/condition=trisomy13

www.livingwithtrisomy13.org/index.htm

Prader-Willi

syndrome

ChrAbsence of

paternally derived

region of chromosome

15 or abnormally

methylated critical

region of chromosome

15

Prenatal; infancy

to early

childhood

Severe hypotonia, failure to

thrive in early infancy; after

1-2 yr of age, excessive

eatingincluding nonfood

items; morbid obesity;

cognitive impairment;

distinctive behavioral

problems; hypogonadism

www.ncbi.nlm.nih.gov/bookshelf/br.

fcgi?book=gene&part=pws

http://ghr.nlm.nih.gov/condition=praderwillisyndro

me

Turner syndrome Chr45,XO Prenatal to

adolescence

Lymphedema at birth,

coarctation, short stature,ovarian dysgenesis, lack of

secondary sex characteristics

during adolescence

http://ghr.nlm.nih.gov/condition=turnersyndrome

http://pediatrics.aappublications.org/cgi/content/full/111/3/692

AD,Autosomal dominant; Chr,chromosomal.

*Support groups are listed on most websites. However, before referring families to support groups, particularly for families that discovered the

diagnosis prenatally, carefully review the support group and describe its focus to the couple so they can make an informed decision about

whether to visit it.

http://-/?-http://www.geneclinics.org/profiles/angelman/details.htmlhttp://ghr.nlm.nih.gov/condition=angelmansyndromehttp://www.angelman.org/http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene%26part=bwshttp://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene%26part=bwshttp://ghr.nlm.nih.gov/condition=beckwithwiedemannsyndromehttp://ghr.nlm.nih.gov/condition=beckwithwiedemannsyndromehttp://www.beckwith-wiedemann.info/http://ghr.nlm.nih.gov/condition=criduchatsyndromehttp://www.fivepminus.org/http://ghr.nlm.nih.gov/condition=downsyndromehttp://aappolicy.aappublications.org/cgi/content/full/pediatrics;107/2/442http://aappolicy.aappublications.org/cgi/content/full/pediatrics;107/2/442http://www.ndss.org/http://www.nads.org/http://ghr.nlm.nih.gov/condition=trisomy18http://www.trisomy18.org/http://ghr.nlm.nih.gov/condition=klinefeltersyndromehttp://ghr.nlm.nih.gov/condition=trisomy13http://www.livingwithtrisomy13.org/index.htmhttp://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene%26part=pwshttp://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene%26part=pwshttp://ghr.nlm.nih.gov/condition=praderwillisyndromehttp://ghr.nlm.nih.gov/condition=praderwillisyndromehttp://ghr.nlm.nih.gov/condition=turnersyndromehttp://pediatrics.aappublications.org/cgi/content/full/111/3/692http://pediatrics.aappublications.org/cgi/content/full/111/3/692http://pediatrics.aappublications.org/cgi/content/full/111/3/692http://pediatrics.aappublications.org/cgi/content/full/111/3/692http://ghr.nlm.nih.gov/condition=turnersyndromehttp://ghr.nlm.nih.gov/condition=praderwillisyndromehttp://ghr.nlm.nih.gov/condition=praderwillisyndromehttp://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene%26part=pwshttp://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene%26part=pwshttp://www.livingwithtrisomy13.org/index.htmhttp://ghr.nlm.nih.gov/condition=trisomy13http://ghr.nlm.nih.gov/condition=klinefeltersyndromehttp://www.trisomy18.org/http://ghr.nlm.nih.gov/condition=trisomy18http://www.nads.org/http://www.ndss.org/http://aappolicy.aappublications.org/cgi/content/full/pediatrics;107/2/442http://aappolicy.aappublications.org/cgi/content/full/pediatrics;107/2/442http://ghr.nlm.nih.gov/condition=downsyndromehttp://www.fivepminus.org/http://ghr.nlm.nih.gov/condition=criduchatsyndromehttp://www.beckwith-wiedemann.info/http://ghr.nlm.nih.gov/condition=beckwithwiedemannsyndromehttp://ghr.nlm.nih.gov/condition=beckwithwiedemannsyndromehttp://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene%26part=bwshttp://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene%26part=bwshttp://www.angelman.org/http://ghr.nlm.nih.gov/condition=angelmansyndromehttp://www.geneclinics.org/profiles/angelman/details.htmlhttp://-/?-