Chromosomal Disorders Flashcards Preview

Board Review > Chromosomal Disorders > Flashcards

Flashcards in Chromosomal Disorders Deck (15)
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1

4

Huntington (trinucleotide repeat)
ADPKD (PKD2)
achondroplasia

2

13

Patau
Wilson disease
RB1
BRCA2

3

18

Edward

4

21

ALL, AML (translocation)
Down (trisomy)

5

11

WT1
beta-globin gene defects (SCD, beta-thal)
MEN1

6

15

Prader Willi (imprint mutation)
Angelman (imprint mutation)
Marfan (point mutation)

7

7

William
CF

8

3

VHL, RCC

9

5

Cri-du-chat
FAP

10

6

hemochromatosis

11

9

Friedreich ataxia
TSC1

12

16

ADPKD (PKD1)
alpha-globin gene defects (alpha-thal)
TSC2

13

17

NF type 1
BRCA1
TP53 (Li-Fraumeni)

14

22

NF type 2
DiGeorge

15

X

Fragile X
X-linked agammaglobulinemia
Klinefelter (XXY)