Chromosomes Flashcards
1
Q
3
A
vHL, renal cell carcinoma
2
Q
4
A
ADPKD with PKD2 defect
Huntington
3
Q
5
A
Cri du chat
FAP
4
Q
7
A
Williams
CF
5
Q
9
A
Friedrich ataxia
6
Q
11
A
Wilms
7
Q
13
A
Patau
Wilson
8
Q
15
A
Prader Willi
Angelman
9
Q
16
A
ADPKD with PKD1
10
Q
17
A
NF1
11
Q
18
A
Edwards
12
Q
21
A
Down
13
Q
22
A
NF2
DiGeorge
14
Q
X
A
OTC deficiency Fabry Wiskott-Aldrich Ocular albinism G6PD Hemophilia A&B Bruton's Hunter Lesch-Nyhan Muscular dystrophy