Genetics Flashcards
(15 cards)
1
Q
Chromosome 3
A
Von Hippel Linda
Renal cell carcinoma
2
Q
Chromosome 4
A
ADPKD with PKD2 defect
Huntington’s
3
Q
Chromosome 5
A
Cri-du-chat
Familial adenomatous polyposis
4
Q
Chromosome 7
A
Williams Syndrome
Cystic fibrosis
5
Q
Chromosome 9
A
Friedreich ataxia
6
Q
Chromosome 11
A
Wilms tumor
7
Q
Chromosome 13
A
Patau Syndrome
Wilson disease
8
Q
Chromosome 15
A
Prader Willi
Angelman
*both are due to imprinting defect
9
Q
Chromosome 16
A
ADPKD with PKD1 defect
10
Q
Chromosome 17
A
Neurofibromatosis type 1
11
Q
Chromosome 18
A
Edwards Syndrome
12
Q
Chromosome 21
A
Down syndrome
13
Q
Chromosome 22
A
Neurofibromatosis type 2 DiGeorge Syndrome (22q11)
14
Q
X linked recessive
A
Be Wise, Fool’s GOLD Heads Silly HOpe
Briton agammaglobinema Wiskott-Aldrich Fabry disease G6PD deficiency Ocular albinism Lesch-Nyhan Duchenne and Becker MD Hunter Syndrome Hemophilia A and B Ornithine Transcarbamylase Defiency
15
Q
X linked defect
A
Fragile X Syndrome
Klinefelter’s
