Mode of inheritance Flashcards
1
Q
G6PD deficiency
A
X-linked recessive
2
Q
Hereditary spherocytosis
A
Autosomal dominant
3
Q
Vitamin D resistant rickets
A
X-linked DOMINANT
4
Q
Leber’s hereditary optic neuropathy
A
Mitochondrial
5
Q
Ataxia telangiectasia
A
AR
6
Q
Familial adenomatous polyposis
A
AD
7
Q
Peutz-Jeghers syndrome
A
AD
8
Q
Juvenile polyposis syndrome
A
AD
9
Q
Lynch syndrome
A
AD (aka hereditary nopolyposis colorectal cancer)
10
Q
Wilson disease
A
Autosomal recesive
11
Q
Primary hemochromatosis
A
AR (due to C282Y or H63D mutation on HFE gene)
