genetics Flashcards

1
Q

what type of inheritence is MEN 1, 2a, 2b

A

autosomal dominant

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2
Q

ramsay hunt mode of inheritance

A

autosomal dominant

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3
Q

mumur associated with turner syndrome

A

ejection systolic murmur

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4
Q

congenital adrenal hyperplasia inheritance

A

autosomal recessive

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5
Q

angiomylypoma mode of inheritance

A

autosomal dominant

(most common benign renal tumour, looks like dark spots on kidney in a CT)

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6
Q

conventional clear cell carcinoma : what type od gene loss and what chromosome

A

von hippel landau gene on chromosome 3

(most common renal cancer )

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7
Q

kallman syndrome affected gene and mode of inheritance

and karyotype

A

x-linked recessive

dodgy x gene

46xy

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8
Q

marfans mode of inheritance and what gene is affected

A

autosomal dominant

FBN1 gene, chromosome 15

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9
Q

mody inheritence

A

autosomal dominant

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10
Q

turner syndrome karyotype

A

one x instead of two, (45 X)

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11
Q

mode of inheritence tubreous sclerosis

A

autosomal dominant

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12
Q

epidermolysis bullosa mode of inheritence

A

autosomnal recessive

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13
Q

neurofibromatosis mode of inheritence

A

autosomal dominant

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