Chromosomal disorders Flashcards
1
Q
Renal cell CA
A
Chromosome 3
2
Q
ADPKD with PKD2 defect
A
Chromosome 4
3
Q
Huntington Disease
A
Chromosome 4
4
Q
Cri-du-chat syndrome
A
Chromosome 5
5
Q
Familial Adenomatous Polyposis
A
Chromosome 5
6
Q
Williams syndrome
A
Chromosome 7
7
Q
Cystic fibrosis
A
Chromosome 7
8
Q
Friedreich Ataxia
A
Chromosome 9
9
Q
Wilms tumor
A
Chromosome 11
10
Q
Prader-Willi Syndrome
A
Chromosome 15
11
Q
Angelman syndrome
A
Chromosome 15
12
Q
ADPKD with PKD1 defect
A
Chromosome 16
13
Q
Neurofibromatosis type 1
A
Chromosome 17
14
Q
Edwards Syndrome
A
Chromosome 18
15
Q
Down syndrome
A
Chromosome 21
16
Q
Neurofibromatosis type 2
A
Chromosome 22
17
Q
DiGeorge Syndrome
A
Chromosome 22 (22q11)
18
Q
Fragile X syndrome
A
Chromosome X
19
Q
X-linked agammaglobulinemia
A
Chromosome X
20
Q
Klinefelter syndrome
A
Chromosome X
21
Q
Von Hippel-Lindau disease
A
Chromosome 3
