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Board Review > Chromosomal Disorders > Flashcards

Chromosomal Disorders Flashcards

1
Q

4

A

Huntington (trinucleotide repeat)
ADPKD (PKD2)
achondroplasia

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2
Q

13

A

Patau
Wilson disease
RB1
BRCA2

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3
Q

18

A

Edward

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4
Q

21

A

ALL, AML (translocation)

Down (trisomy)

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5
Q

11

A

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

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6
Q

15

A 
Prader Willi (imprint mutation)
Angelman (imprint mutation)
Marfan (point mutation)
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7
Q

7

A

William

CF

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8
Q

3

A

VHL, RCC

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9
Q

5

A

Cri-du-chat

FAP

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10
Q

6

A

hemochromatosis

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11
Q

9

A

Friedreich ataxia

TSC1

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12
Q

16

A

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

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13
Q

17

A

NF type 1
BRCA1
TP53 (Li-Fraumeni)

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14
Q

22

A

NF type 2

DiGeorge

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15
Q

X

A

Fragile X
X-linked agammaglobulinemia
Klinefelter (XXY)

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Board Review (9 decks)

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