Lecture-9-DNA-modification- epigenetics

Xoturnersyndrome reducedviability

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Unformatted text preview: somes • Mustbereactivatedintheoogonia • EveryovumreceivesanactiveXchromosome • InfertilityinwomenwithTurner ssyndrome – (XOfemales) • SometimesreflectdefectsinXreactivation – theiroogoniahaveonlyoneactiveXinsteadofthenormaltwo 29 TurnerSyndrome(45,X) XchromosomeMonosomy • Patientshaveshortstatureandwebneck • Manypatientsaremosaics(45,X/46,XX) • Sterile AconsequenceofX ­‑inactivation X ­‑chromosomeimbalancesareviableandoftenfertile •  X ­‑inactivation –  ensuresthatthemajorityofgenesontheXchromosome.. –  Areexpressedatasingledosageinfemales,malesandaneuploidswith variablenumbersofXchromosomes. •  Therefore,mostX ­‑chromosomeaneuploidsareviable –  cellcontainingmultipleXchromosomes •  However,somegenesontheXchromosomeescapeinactivation •  Genesthatescapeinactivation –  areresponsibleforthephenotypesassociatedwithXchromosome aneuploidies. KlinefelterSyndrome(47,XXY) Patientstall,thin,feminizedandinfertile.Haveincreasedriskforlearning disabilitiesandlanguagedifficulties. WhyKline...
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