Chromosomal disorders Flashcards
1
Q
ADPKD (PKD 2 defect)
Huntington’s disease
A
4
2
Q
Cri-du-chat
FAP
A
5
3
Q
Williams syndrome
Cystic fibrosis
A
7
4
Q
Friedrich ataxia
A
9
5
Q
Wilm’s tumor
MEN 1
A
11
6
Q
Patau’s syndrome
Wilson disease
Retinoblastoma
Osteosarcoma
A
13
7
Q
Prader willi
Angelman
A
15
8
Q
ADPKD (PKD 1 defect)
A
16
9
Q
Neurofibromatosis 1
A
17
10
Q
Edward syndrome
A
18
11
Q
Down’s syndrome
A
21
12
Q
Neurofibromatosis 2
DiGeorge syndrome
A
22
13
Q
Von Hippel Lindau
Renal cell CA
A
3
