Patho- genetics Flashcards
1
Q
cystic fibrosis
sickle cell anemia
phenylketonuria
glycogen storage disease
A
autosomal recessive disorders
2
Q
Adult polycystic kidney disease Huntington’s chorea Familial hypercholesterolemia Marfan’s syndrome Neurofibromatosis
A
autosomal dominant disorders
3
Q
Duchenne’s muscular distrophy
hemophilia A
A
X-linked recessive disorders
4
Q
fragile x syndrome
A
X-linked dominant disorder
mental retardation
5
Q
Trisomy 21
A
down syndrome
6
Q
Turner syndrome
A
females with only one x chromosome
-webbed neck, underdeveloped breasts, no menstruation
7
Q
Klinefelters syndrome
A
men have extra x chromosome
-small penis, womanly features
