7/31/2019 Genetic test some more stress…

http://slidepdf.com/reader/full/genetic-test-some-more-stress 1/1

Genetictestsomemorestress…?DefinitiveTrickPage!!

•  Trisomy18(Edward’ssyndrome)-47,XX,+18

•  Turnersyndrome-46XX/45XO

•  Beta-thalassemia-autosomalrecessive,onbetaglobinalleles,

notspecific

•  Downsyndrome-Trisomy21(47,XX,+21)

•  MosaicDownsyndrome(46,XX/47,XX,+21)(isjustavariation,for

completeness)

•  Jacob'ssyndrome-47,XYY

•  Trisomy13(Patausyndrome)–(47,XX,+13)

•  Turner’sSyndrome-46XX/45XO

•  Klynefelter’sSyndrome-47,XXY

•  CysticFibrosis–46,XX,+7p

•  PKU(Phenylketonuria)–46,XX,12q

•  SickleCellsDisease–46,XX,11p

Anotherlittlehint,insomebooksorduringyourreadingsyoucan

findsuchtypeofcoding:46,XX,12p…whatdahellthat“p”means

instead???Itjustreportyouthoseinfamous“p”and“q”arms!!!

Andforcompletenesshereyougotalistofotherparticlesusedin

geneticsafterthenormalcoding…

Hereweare:

•  P–Pointmutation,oranyinsertion/deletionentirelyinside

onegene•  D–Deletionofageneorgenes

•  C–Wholechromosomeextra,missing,orboth(see

chromosomalaberrations)

•  T–Trinucleotiderepeatdisorders:geneisextendedinlength

Andafterthisadditionpageyoucangeta10tomorrow…

Kingsregards,yourbelovedcolleague,A.M.TakeCare!