Chromosomal Abnormalities Flashcards by Chase Richard

Q

Alzheimer Disease (Presenilin 2)

A

1

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Q

Von Hippel Lindau (VHL)

A

3

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Q

Huntington Disease (CAG repeat)

A

4

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Q

FAP (APC)

A

5

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Q

Williams syndrome (deleted elastin)

A

7

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Q

Cystic Fibrosis (CTFR - Phe508 deletion)

A

7

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Q

Burkitt Lymphoma (c-myc)

A

8

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Q

Friedreich Ataxia (GAA repeat - Frataxin)

A

9

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Q

MEN 2 (RET)

A

10

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Q

Wilms Tumor (WT1)

A

11

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Q

Prader Willi (Maternal imprinting)

A

15

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Q

ADPKD (PKD1)

A

16

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Q

Neurofibromatosis 1 (NF1 -> neuorofibromin)

A

17

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Q

Edwards (Trisomy)

A

18

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Q

Alzheimer Disease (APP)

A

21

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Q

Patau (Trisomy)

A

13

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Q

Neurofibromatosis 2 (NF2 -> merlin)

A

22

Q

Alzheimer Disease (Presenilin 1)

A

14

Q

Peutz Jeghers (STK11)

A

19

Q

ADPKD (PKD2)

A

4

Q

Cri du Chat (Short arm deletion)

A

5

Q

B thalassemia (point mutation)

A

11

Q

Mantle Cell Lymphoma (Cyclin D)

A

11

Q

Angelman (Paternal imprinting)

A

15

Q

Marfan Syndrome (FBN1)

A

15

Q

Down Syndrome (Trisomy)

A

21

Q

a thalassemia (gene deletion)

A

16

Q

Fragile X (FMR1)

A

X

Q

Bruton agammaglobulinemia

A

X

Q

Ornithine transcarbamylase deficiency

A

X

Q

Wiskott Aldrich

A

X

Q

G6PD

A

X

Q

Hemophilia A

A

X

Q

Hemophilia A

A

X

Q

Hunter

A

X

Q

Fabry

A

X

Q

Becker (insertions - Dystrophin)

A

X

Q

Duchenne (frameshift - truncated Dystrophin)

A

X

Q

Lesch-nyhan

A

X

Q

Retinoblastoma (Rb)

A

13

Q

Wilson Disease (ATP7B)

A

13

Q

Dysplastic Nevus Syndrome (CDK2A)

A

9