Chromosomes and diseases Flashcards
1
Q
3
A
vHL, RCC
2
Q
4
A
ADPKD (PKD2), achondroplasia, Huntington
3
Q
5
A
Cri-du-chat, FAP
4
Q
6
A
Hereditary hemochromatosis
5
Q
7
A
Williams, CF
6
Q
9
A
Friedreich ataxia
7
Q
11
A
Wilms tumor, beta-globulin defects (SCD, beta-thal., MEN1)
8
Q
13
A
Patau, Wilson, retinoblastoma, BRCA2
9
Q
15
A
Prader-Willi, Angelman, Marfan
10
Q
16
A
ADPKD (PKD1), alpha thal.
11
Q
17
A
NFT1, BRCA1, p53
12
Q
18
A
Edwards
13
Q
21
A
Down
14
Q
22
A
NFT2, DiGeoge (22q11 defect)
15
Q
X
A
Fragile X, X-linked agammaglobulinemia, Kleinfelter (XXY)
