Chromosomal disorders Flashcards

1
Q

what disorders are on chrom 3

A

VHL

renal cell carcinoma

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2
Q

what disorders are on chrom 4

A

ADPKD w/PKD2 defect

Huntingtons

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3
Q

what disorders are on chrom 5

A

Cri-du-Chat

familial adenomatous polyposis

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4
Q

what disorders are on chrom 7

A

Willliams syndrome

CF

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5
Q

what disorders are on chrom 9

A

Friedreich ataxia

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6
Q

what disorders are on chrom 11

A

wilms tumor

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7
Q

what disorders are on chrom 13

A

Patau

Wilsons disease

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8
Q

what disorders are on chrom 15

A

prader-willi syndrome

angelman syndrome

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9
Q

what disorders are on chrom 16

A

ADPKD w/ PKD1 defect

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10
Q

what disorders are on chrom 17

A

NF1

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11
Q

what disorders are on chrom 18

A

edwards sydrome

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12
Q

what disorders are on chrom 21

A

downs

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13
Q

what disorders are on chrom 22

A

NF2

DiGeorge

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14
Q

what disorders are on chrom X

A

fraglie X
x-linked agammaglobulinemia
klinefelters

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