CHROMOSOMAL DISORDERS Flashcards
1
Q
von Hippel-Landau disease, renal cell carcinoma
A
3
2
Q
ADPKD, achondroplasia, Huntington disease
A
4
3
Q
cri-du-chat syndrome, familial adenomatous polyplasia
A
5
4
Q
hemochromatosis
A
6
5
Q
williams syndrome, cystic fibrosis
A
7
6
Q
Friedrich ataxia, tuberous sclerosis (TSCI)
A
9
7
Q
WIlms tumor, B-globin gene defects (sickle cell disease)
A
11
8
Q
patau syndrome, wilson disease, retinoblastoma, BRCA2
A
13
9
Q
Prader Willi syndrome, angel man syndrome, marfan syndrome
A
15
10
Q
ADPKD, alpha globin gene defects (alpha thalessemia), tuberous sclerosis (TSC2)
A
16
11
Q
neurofibromatosis type 1, BRCA1, TP53
A
17
12
Q
Edwards syndrome
A
18
13
Q
down syndrome
A
21
14
Q
neurofibromatosis type 2, digeorge syndrome (22q11)
A
22
15
Q
fragile x syndrome, x-linked agammaglobinemia, Klinefelter syndrome (XXY)
A
X
