Genetic disorders by chromosome Flashcards
1
Q
3
A
VHL, RCC
2
Q
4
A
ADPKD (PKD2), achondroplasia, Huntington disease
3
Q
5
A
cri-du-chat syndrome
familial adenomatous polyposis
4
Q
6
A
Hemochromatosis (HFE)
5
Q
7
A
Williams syndrome
CF
6
Q
9
A
Friedreich ataxia
7
Q
11
A
Wilms tumor
B-globin gene defects (eg sickle cell disease, B-thal)
8
Q
13
A
Patau syndrome (puberty age 13), Wilson disease, retinoblastoma (RB1), BRCA2
9
Q
16
A
Prader-Wili syndrome
Angelman syndrome
Marfan syndrome
10
Q
16
A
ADPKD (PKD1), alpha-globin gene defects (eg a-thal)
11
Q
17
A
NF1, BRCA1
12
Q
18
A
Edwards syndrome (election age 18)
13
Q
21
A
Down synd
14
Q
22
A
NF2, DiGeorge synd (22q11)
15
Q
X
A
Fragile X, X-linked agammaglobulinemia, Klinefelter (XXY)
