Chromosomes involved in given diseases Flashcards

1
Q

NF2

A

Chromosome 22

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2
Q

Patau

A

Trisomy 13

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3
Q

Edwards syndrome

A

Trisomy 18

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4
Q

Friedreich’s ataxia

A

Chromosome 9 (frataxin gene)

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5
Q

Huntington’s Disease

A

Chromosome 4

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6
Q

VHL

A

Chromosome 3, RCCA

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7
Q

ADPKd

A

Chromosome 16 for PKD1 (more common)

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8
Q

FAP

A

APC mutation on chromosome 5

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9
Q

CF

A

CFTR mutation on Chromosome 7

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10
Q

Wilms tumor

A

chromosome 11

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11
Q

Wilson disease

A

Chromosome 13

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12
Q

Prader-Willi and Angelman

A

Chromsome 15

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13
Q

NF1

A

chromosome 17

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14
Q

DiGeorge

A

Chromosome 22

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15
Q

MEN1

A

Chrom 11

pituitary, parathyroid, pancreas

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16
Q

MEN2a, 2b

A

RET gene on chrom 10

2a - thyroid, parathyroid, pheos

2b - neuromas, thyroid, pheos