Chromosomal Disorders Flashcards
1
Q
3
A
von Hippel-Lindau disease
Renal cell carcinom
2
Q
4
A
ADPKD with PKD2 defect
Huntingtons
3
Q
5
A
Cri-du-chat syndrome
Familial adenomatous polyposis
4
Q
7
A
Williams syndrome
Cystic fibrosis
5
Q
9
A
Friedreich ataxia
6
Q
11
A
Wilms tumor
7
Q
13
A
Pateu syndrome
Wilson disease
8
Q
15
A
Prader-Willi syndrome
Angelman syndrome
9
Q
16
A
ADPKD with PKD1 defect
10
Q
17
A
Neurofibromatosis type 1
11
Q
18
A
Edwards syndrome
12
Q
21
A
Down syndrome
13
Q
22
A
Neurofibromatosis type 2 DiGeorge syndrome (22q11)
14
Q
X
A
Fragile X syndrome
X-linked agammaglobulinemia
Klinefelter
