Clinical Genetics Flashcards by Priyancaa Jeyabaladevan

Q

Mutation of PAX6 causes 11p

A

Aniridia

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Q

Mutation of RB1 on 13q causes

A

retinoblastoma

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Q

CHRPE is associated with

A

Familial adenomtous polyposis

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Q

PAX3 mutation causes

A

Waardenburg syndrome

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Q

Abnormal number of cells is called

A

Aneuploidy

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Q

Trisomy 21

A

Down syndrome

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