First Aid - Genetic diseases Flashcards
(41 cards)
1
Q
ADPKD
A
AD ch 16, 4
2
Q
FAP
A
AD ch 5
3
Q
familial hypercholesterolemia
A
AD
4
Q
hereditary hemorrhagic telangiectasia
A
AD
5
Q
hereditary spherocytosis
A
AD
6
Q
huntington disease
A
AD chr 4
7
Q
marfan syndrome
A
AD
8
Q
MEN
A
AD
9
Q
NF1/2
A
AD ch 17, 22
10
Q
Tuberous sclerosis
A
AD ch 9
11
Q
VHL disease
A
AD ch 3
12
Q
albinism
A
AR
13
Q
ARPKD
A
AR
14
Q
CF
A
AR ch 7
15
Q
glycogen storage diseases
A
AR
16
Q
hemochromatosis
A
AR
17
Q
kartageners
A
AR
18
Q
mucopolysaccharidoses except hunter
A
AR
19
Q
pku
A
AR
20
Q
sca
A
AR
21
Q
sphinolipidoses except fabry
A
AR
22
Q
thalassemias
A
AR
23
Q
wilson’s
A
AR
24
Q
bruton agammaglobulinemia
A
X-linked recessive
25
wiskott-aldrich
X-linked recessive
26
fabry
X-linked recessive
27
g6pd deficiency
X-linked recessive
28
ocular albinism
X-linked recessive
29
lesch-nyhan
X-linked recessive
30
duchenne and becker muscular dystrophy
X-linked recessive
31
hunter syndrome
X-linked recessive
32
hemophilia A and B
X-linked recessive
33
OTC deficiency
X-linked recessive
34
down
trisomy 21
35
edwards
trisomy 18
36
patau
trisomy 13
37
cri-du-chat
microdeletion short arm ch.5
38
williams
microdeletion long arm ch.7
39
digeorge
microdeletion 22q11
40
velocardiofacial syndrome
microdeletion 22q12
41
hypophosphatemic rickets
X linked dominant
