Genetic d/o by chrms Flashcards
1
Q
Chrm 3
A
von Hippel-Lindau dz
Renal cell carcinoma
2
Q
Chrm 4
A
ADPKD (PKD2)
Achondroplasia
Huntington dz
3
Q
Chrm 5
A
Cri-du-chat syndrome
Familial adenomatous polyposis
4
Q
Chrm 6
A
Hemochromatosis (HFE)
5
Q
Chrm 7
A
Williams syndrome
Cystic Fibrosis
6
Q
Chrm 9
A
Friedreich ataxia
7
Q
Chrm 11
A
Wilms tumor
b-globin gene defects (sickle cell dz, b-thalassemia)
8
Q
Chrm 13
A
Patau syndrome
Wilson dz
Retinoblastoma (RB1)
BRCA2
9
Q
Chrm 15
A
Prader-Willi syndrome
Angelman syndrome
Marfan syndrome
10
Q
Chrm 16
A
ADPKD (PKD1)
a-globin gene defect (a-thalassemia)
11
Q
Chrm 17
A
Neurofibromatosis type 1
BRCA1
12
Q
Chrm 18
A
Edwards syndrome
13
Q
Chrm 21
A
Down syndrome
14
Q
Chrm 22
A
Neurofibromatosis type 2
DiGeorge (22q11)
15
Q
X chrm
A
Fragile X syndrome
X-linked agammaglobulinemia
Klinefelter syndrome (XXY)
