Chromosomal abnormalities Flashcards
1
Q
Chromosome 3
A
von hippel-lindau disease
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 Tuberous Sclerosis (TSC1)
7
Q
Chromosome 11
A
Wilms tumor
B-globin gene defects (sickle cell, thalassemias)
MEN1
8
Q
Chromosome 13
A
Patau syndrome
Wilson disease (wilson acts prepubescent)
Retinoblastoma (RB1)
BRCA2
9
Q
Chromosome 15
A
Prader-Willi syndrome
Angelman syndrome
Marfan syndrome
10
Q
Chromosome 16
A
ADPKD (PKD1) alpha globin gene defects Tuberous sclerosis (TSC2)
11
Q
Chromosome 17
A
Neurofibromatosis type 1
BRCA1
p53
12
Q
Chromosome 18
A
Edwards syndrome
13
Q
Chromosome 21
A
Down syndrome
14
Q
X
A
Fragile X
X-linked agammaglobulinemia
Klinefelter syndrome (XXY)
