Genetic d/o's by c'some # Flashcards
1
Q
VHL?
A
3
2
Q
Wilson?
A
13
3
Q
Down?
A
21
4
Q
Edwards?
A
18
5
Q
Patau?
A
13
6
Q
CF?
A
7
7
Q
NF2?
A
22
8
Q
NF1?
A
17
9
Q
Beta-globin gene defects (SCD, beta-thal…)
A
11
10
Q
ADPKD, PKD1?
PKD2?
A
PKD1: 16
PKD2: 4
11
Q
Williams syndrome?
A
7
12
Q
DiGeorge?
A
22 (22q11)
13
Q
BRCA1?
A
17
14
Q
Prader-Willi and Angelman syndromes?
A
15
15
Q
RCC?
A
3
16
Q
Achondroplasia?
A
4
17
Q
Alpha-globin gene defects? (eg alpha-thal…)
A
16
18
Q
RB? (RB1)
A
13
19
Q
Friedreich ataxia?
A
9
20
Q
Huntington?
A
4
21
Q
Wilms tumor?
A
11
22
Q
Cri-du-chat?
A
5
23
Q
Marfan?
A
15
24
Q
Hemochromatosis? (HFE)
A
6
25
FAP?
5
