Chromosomal Disorders Flashcards Preview

Biochemistry > Chromosomal Disorders > Flashcards

Flashcards in Chromosomal Disorders Deck (14):
1

Chr. 3

VHL
Renal Cell Carcinoma

2

Chr. 4

ADPKD with PKD2 defect
Huntington Disease

3

Chr. 5

Cri-du-chat Syndrome
FAP

4

Chr. 7

Williams Syndrome ("elfin facies")
Cystic Fibrosis

5

Chr. 9

Friedreich Ataxia
Tuberous Sclerosis

6

Chr. 11

Wilms tumor

7

Chr. 13

Patau Syndrome
Wilson Disease

8

Chr. 15

Prader-Willi Syndrome
Angelman Syndrome
Marfan Syndrome

9

Chr. 16

ADPKD with PKD1 defect
Tuberous Sclerosis

10

Chr. 17

NF1

11

Chr. 18

Edwards Syndrome

12

Chr. 21

Down Syndrome

13

Chr. 22

NF2
DiGeorge Syndrome (22q11)

14

Chr. X

Fragile X Syndrome
X-linked Agammaglobulinemia
Klinefelter Syndrome (XXY)