Chromosomal Disorders Flashcards

1
Q

Chromosome 4

A

ADPKD with PKD2 mutation, Huntingtons

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2
Q

Chromosome 5

A

Cru du chat, Familial Adenomatous Polyposis

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3
Q

Chromosome 7

A

Cystic Fibrosis, William syndrome

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4
Q

Chromosome 9

A

Friedrich ataxia

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5
Q

Chromosome 11

A

Wilms tumor

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6
Q

Chromosome 13

A

Patau, Wilson disease

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7
Q

Chromosome 15

A

Prader-willi, Angelman, Marfans

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8
Q

Chromsome 16

A

ADPKD with PKD1 defect

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9
Q

NF1

A

Chromsome 17

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10
Q

Chromsome 18

A

Edwards

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11
Q

Chromsome 21

A

Downs

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12
Q

Chromsome 22

A

NF2, DiGeorge

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13
Q

Chromosome 3

A

VHL, renal cell carcinoma

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