Chromosomal disorders Flashcards Preview

Step I > Chromosomal disorders > Flashcards

Flashcards in Chromosomal disorders Deck (14):
1

what disorders are on chrom 3

VHL
renal cell carcinoma

2

what disorders are on chrom 4

ADPKD w/PKD2 defect
Huntingtons

3

what disorders are on chrom 5

Cri-du-Chat
familial adenomatous polyposis

4

what disorders are on chrom 7

Willliams syndrome
CF

5

what disorders are on chrom 9

Friedreich ataxia

6

what disorders are on chrom 11

wilms tumor

7

what disorders are on chrom 13

Patau
Wilsons disease

8

what disorders are on chrom 15

prader-willi syndrome
angelman syndrome

9

what disorders are on chrom 16

ADPKD w/ PKD1 defect

10

what disorders are on chrom 17

NF1

11

what disorders are on chrom 18

edwards sydrome

12

what disorders are on chrom 21

downs

13

what disorders are on chrom 22

NF2
DiGeorge

14

what disorders are on chrom X

fraglie X
x-linked agammaglobulinemia
klinefelters