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Flashcards in Genetics Deck (15)
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1

Chromosome 3

Von Hippel Linda
Renal cell carcinoma

2

Chromosome 4

ADPKD with PKD2 defect
Huntington's

3

Chromosome 5

Cri-du-chat
Familial adenomatous polyposis

4

Chromosome 7

Williams Syndrome
Cystic fibrosis

5

Chromosome 9

Friedreich ataxia

6

Chromosome 11

Wilms tumor

7

Chromosome 13

Patau Syndrome
Wilson disease

8

Chromosome 15

Prader Willi
Angelman

*both are due to imprinting defect

9

Chromosome 16

ADPKD with PKD1 defect

10

Chromosome 17

Neurofibromatosis type 1

11

Chromosome 18

Edwards Syndrome

12

Chromosome 21

Down syndrome

13

Chromosome 22

Neurofibromatosis type 2
DiGeorge Syndrome (22q11)

14

X linked recessive

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

X linked defect

Fragile X Syndrome
Klinefelter's