Genetic Disorders Flashcards
1
Q
Trisomy 21 aka Down’s Syndrome
A
Mother > 40, die by 40-50 y.o.
2
Q
Turner’s Syndrome aka Bonnevie - Ullrich
A
XO infantile female, secondary sexual characteristics, 45x
3
Q
Klinefelter’s Syndrome
A
XXY male, small testes, possible mental deficiency (47)
4
Q
DiGeorge Anomaly
A
Thymic hypoplasia, “T” cell immunodeficiency
