Chromosome Specific Pathologic Genetic Associations Flashcards by Kenneth Felsenstein

Q

von Hippel-Lindau disease

A

Chromosome 3

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Q

Renal Cell Carcinoma

A

Chromosome 3

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Q

Huntington Disease

A

Chromosome 4

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Q

ADPKD w/ PKD2

A

Chromosome 4

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Q

Cri-du-chat syndrome

A

Chromosome 5

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Q

Familial adenomatous polyposis (APC)

A

Chromosome 5

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Q

Williams syndrome

A

Chromosome 7 (William has 7 letters)

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Q

Cystic Fibrosis (CFTR)

A

Chromosome 7

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Q

Friedreich ataxia

A

Chromosome 9

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Q

Wilms tumor

A

Chromosome 11

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Q

Patau Syndrome

A

Chromosome 13, Trisomy

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Q

Prader-Willi/Angelman syndrome

A

Chromosome 15

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Q

ADPKD w/ PKD1

A

Chromosome 16

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Q

Neurofibromatosis type 1 (NF1)

usually NO hearing loss

A

Chromosome 17, autosomal dominant, 50% mutations

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Q

Edwards Syndrome

A

Chromosome 18, Trisomy

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Q

Down Syndrome

A

Chromosome 21, Trisomy

Q

Neurofibromatosis type 2

bilateral acoustic schwannomas, often leading to hearing loss

A

Chromosome 22

Q

DiGeorge syndrome

A

Chromosome 22

Q

Bruton’s agammablogulinemia

A

X Chromosome