X linked Flashcards
1
Q
Males
A
X-linked recessive genes will call disease in all males
Men will transfer genetic variant to all daughters, no sons - skipped generations commonly seen in X linked recessive conditions
2
Q
X linked recessive conditions
A
Haemophilia A/B
Duchenne muscular dystrophy
Androhen insensitivity syndrome
3
Q
X linked dominant
A
Vitamin D resistant rickets
Rett’s syndrome
4
Q
XLMR
A
Fragile X
MECP2 mutation - Rett syndrome, severe encephalopathy, progressive spasticity, Angelman, Prader-Willi
