Chromosomes Flashcards
1
Q
Chromosome 3
A
Von Hippel-Lindau
Renal Cell Carcinoma
2
Q
Chromosome 4
A
ADPKD (PKD2)
Achondroplasia
Huntington Disease
3
Q
Chromosome 5
A
Cri-Du-Chat syndrome
Familial Adenomatous Polyposis
4
Q
Chromosome 6
A
Hemochromatosis (HFE)
5
Q
Chromosome 7
A
Williams Syndrome
Cystic Fibrosis
6
Q
Chromosome 9
A
Friedrich Ataxia
7
Q
Chromosome 11
A
Wilms Tumor
Beta-Globin gene defects - Sickle Cell, Beta-Thalassemia
MEN1
8
Q
Chromosome 13
A
Patau Syndrome
Wilson Disease
Retinoblastoma (RB1)
BRCA2
9
Q
Chromosome 15
A
Prader-Willi syndrome
Angelman syndrome
Marfan syndrome
10
Q
Chromosome 16
A
ADPKD (PKD1)
Alpha-Thalassemia
11
Q
Chromosome 17
A
NF-1
BRCA1
p53
12
Q
Chromosome 18
A
Edwards Syndrome
13
Q
Chromosome 21
A
Down Syndrome
14
Q
Chromosome 22
A
NF-2 DiGeorge Syndrome (22q11)
15
Q
X Chromosome
A
Fragile X, X-Linked Agammaglobulinemia, Klinefelter (XXY)
