Chromosomal disorders Flashcards

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1
Q

Renal cell CA

A

Chromosome 3

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2
Q

ADPKD with PKD2 defect

A

Chromosome 4

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3
Q

Huntington Disease

A

Chromosome 4

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4
Q

Cri-du-chat syndrome

A

Chromosome 5

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5
Q

Familial Adenomatous Polyposis

A

Chromosome 5

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6
Q

Williams syndrome

A

Chromosome 7

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7
Q

Cystic fibrosis

A

Chromosome 7

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8
Q

Friedreich Ataxia

A

Chromosome 9

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9
Q

Wilms tumor

A

Chromosome 11

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10
Q

Prader-Willi Syndrome

A

Chromosome 15

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11
Q

Angelman syndrome

A

Chromosome 15

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12
Q

ADPKD with PKD1 defect

A

Chromosome 16

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13
Q

Neurofibromatosis type 1

A

Chromosome 17

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14
Q

Edwards Syndrome

A

Chromosome 18

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15
Q

Down syndrome

A

Chromosome 21

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16
Q

Neurofibromatosis type 2

A

Chromosome 22

17
Q

DiGeorge Syndrome

A

Chromosome 22 (22q11)

18
Q

Fragile X syndrome

A

Chromosome X

19
Q

X-linked agammaglobulinemia

A

Chromosome X

20
Q

Klinefelter syndrome

A

Chromosome X

21
Q

Von Hippel-Lindau disease

A

Chromosome 3