Inheritance quiz Flashcards
1
Q
achondroplasia (FGF-R 3)
A
AD
2
Q
adult PKD (APKD1, chromosome 16)
A
AD
3
Q
albinism
A
AR
4
Q
Bruton’s agammaglobinemia
A
XLR
5
Q
cystic fibrosis
A
AR
6
Q
Duchenne (and Becker’s)
A
XLR
7
Q
Fabry’s
A
XLR
8
Q
familial adenomatous polyposis (APC gene, chromosome 5)
A
AD
9
Q
familial hypercholesterolemia (LDL-R)
A
AD
10
Q
fragile x
A
CGG repeats
11
Q
Friedrich’s ataxia
A
AR (GAA repeats, chromosome 9)
12
Q
G6PD deficiency
A
XLR
13
Q
glycogen storage diseases
A
AR
14
Q
hemochromatosis
A
AR
15
Q
Hemophilia A and B
A
XLR
16
Q
hereditary hemorrhagic telangiectasias = Osler-Weber-Rendu syndrome
A
AD
17
Q
hereditary spherocytosis (spectrin or ankyrin)
A
AD
18
Q
Hunter’s syndrome
A
XLR
19
Q
Huntington (chromosome 4)
A
AD
20
Q
infantile PKD
A
AR
21
Q
Lesch-Nyhan syndrome
A
XLR
22
Q
Marfan’s
A
AD
23
Q
MEN
A
AD
24
Q
mucopolysaccharidoses (except Hunter’s)
A
AR
25
myotonic dystophy
CTG repeats
26
NF-1 = von Ricklinghausen's disease (q17)
AD
27
NF-2 (chromosome 22)
AD
28
ocular albinism
XLR
29
PKU
AR
30
sickle cell
AR
31
sphingolipidoses (except Fabry's)
AR
32
thalassemias
AR
33
Tuberous sclerosis
AD
34
von Hippel-Lindau (VHL tumor suppressor gene, chromosome 3)
AD
35
Wiscott-Aldrich syndrome
XLR
