Genetic test some more stress…
2
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!
Transcript of Genetic test some more stress…
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!
