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
