Genetic disorders by chromosome Flashcards
1
Q
Huntington disease
A
4
2
Q
X-linked agammaglobulinemia
A
X
3
Q
Hemochromatosis (HFE gene)
A
6
4
Q
Neurofibromatosis type 1
A
17
5
Q
Marfan syndrome
A
15
6
Q
Angelman syndrome
A
15
7
Q
Williams syndrome
A
7
8
Q
Friedreich ataxia
A
9
9
Q
Cri-du-chat syndrome
A
5
10
Q
p53
A
17
11
Q
Achondroplasia
A
4
12
Q
Patau syndrome
A
13
13
Q
von Hippel-Lindau disease
A
3
14
Q
DiGeorge syndrome
A
22 (22q11)
15
Q
ADPKD (PKD1)
A
16
16
Q
Prader-Willi syndrome
A
15
17
Q
Beta-globin gene defects
sickle cell disease, beta-thalassemia, MEN1
A
11
18
Q
Renal cell carcinoma
A
3
19
Q
Retinoblastoma (RB1)
A
13
20
Q
Alpha-globin gene defects (alpha-thalassemia)
A
16
21
Q
BRCA1
A
17
22
Q
Klinefelter syndrome
A
X
23
Q
Fragile X syndrome
A
X
24
Q
Edwards syndrome
A
18
25
ADPKD (PKD2 gene)
4
26
Wilson disease
13
27
Neurofibromatosis type 2
22
28
Familial adenomatous polyposis (FAP)
5
29
BRCA2
13
30
Wilms tumor
11
31
Cystic fibrosis
7
