First Aid - Genetic diseases Flashcards
(42 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
PJU
A
AR
20
Q
Sickle cell anemia
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 muscular dystrophy
X-linked recessive - frameshift mutation
31
hunter syndrome
X-linked recessive
32
hemophilia A and B
X-linked recessive
33
OTC deficiency
X-linked recessive
34
Down Syndrome
Trisomy 21
35
Edwards syndrome
Trisomy 18
36
Patau Syndrome
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
42
Becker muscular dystrophy
X-linked recessive - point mutation
