SPECIAL - Chromosomes Flashcards by Tom Kesler | Brainscape

Q

von Hippel-Lindau

A

chromosome 3; AD

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Q

Tuberous sclerosis

A

chromosome 16; AD or spontaneous

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Q

Down syndrome

A

chromosome 21; sporadic

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Q

NF1

A

chromosome 17; AD or spontaneous

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Q

von Recklinghausen disease

A

a.k.a. NF1; chromosome 17

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Q

NF2

A

chromosome 22

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Q

Beckwith-Wiedemann

A

chromosome 11

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Q

FAP

A

chromosome 5; AD

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Q

DiGeorge syndrome

A

22q11 deletion (CATCH-22)

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Q

BRCA 1

A

chromosome 17; AD

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Q

BRCA 2

A

chromosome 13; AD

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Q

Oligodendroglioma

A

1p19q deletion corresponds to a better treatment response and prognosis

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Q

Patau syndrome

A

chromosome 13

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Q

Edwards syndrome

A

chromosome 18

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Q

Bourneville-Pringle disease

A

a.k.a. tuberous sclerosis; chromosome 16

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Q

Retinoblastoma

A

chromosome 13