Genetic Flashcards

1
Q

breast cancer high risk ethinictiy

A

Jewish

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2
Q

Kartagener syndrome (now Primary ciliary dyskinesia PCD)

A

bronchiectasis,
sinusitis and
situs inversus

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3
Q

Frontotemporal dementia associated with

A

Motor neurone disease

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4
Q

Turner’s syndrome (45X)

A

1/3 will have hypothyriod (Hashimoto)

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5
Q

All metabolic genetic diseases are autosomal recessive

except

A

FHC

Hypokalaemic periodic paralysis

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6
Q

All structural genetic diseases are autosomal dominant except

A

Frederick’s ataxia

ataxia telangiectasia

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