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MRCOG Part 1 > Genetics > Flashcards

Genetics Flashcards

1
Q

When is Guthrie test performed?

A

Usually day 5, minimum >12h after delivery

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2
Q

What is uniparental disomy?

A

One pair of chromosomes is formed by loss of one parent’s chromosome and duplication of the other parent’s chromosome

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3
Q

Example of uniparental disomy?

A

UPD paternal with loss of maternal chromosome 15 = Angelman syndrome
UPD maternal with loss of paternal chromosome 15 = Prader-Willi syndrome

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MRCOG Part 1 (13 decks)

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