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Foundations Of Medicine > Genetics > Flashcards

Genetics Flashcards

1
Q

47XY +21

A

Down syndrome

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2
Q

47XY +14

A

Miscarriage

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3
Q

47XY +18

A

Edward syndrome

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4
Q

45X

A

Turner syndrome

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5
Q

47XXY

A

Klinefelter syndrome

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6
Q

Karyotyping

A

Only displays chromosomal imbalances

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7
Q

aCGH

A

Array comparative genomic hybridisation
1st line test
Large scale
Detects missing or duplicated pieces of chromosome
Doesn’t detect balanced rearrangements

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8
Q

FISH

A

Fluorescent probes used to find specific features in DNA for use in genetic counselling

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9
Q

PCR

A

Amplifies one small piece of human genome
Can be used to find mutations

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Foundations Of Medicine (6 decks)

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