Clinical diagnostics

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In what scenarios might it be useful to perform a karyotype?
Cases of recurrent miscarriage, infertility, after an array CGH or if a trisomy is suspected
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What are the disadvantages of performing a karyotype?
Must grow cells and requires expert interpretation
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What is an array CGH?
A glass slide with thousands of short sequences of DNA. Reference DNA is labelled green and test DNA is labelled red. The DNA is mixed and allowed to hybridise to the probes in order to detect deletions or duplications in the test DNA.
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What is a positive and negative of using an array CGH?
Can detect contiguous gene syndrome, cannot detect single gene disorders
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What is QF-PCR
Counts chromosomes in order to detect trisomies
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Other cards in this set

Card 2

Front

What are the disadvantages of performing a karyotype?

Back

Must grow cells and requires expert interpretation

Card 3

Front

What is an array CGH?

Back

Preview of the front of card 3

Card 4

Front

What is a positive and negative of using an array CGH?

Back

Preview of the front of card 4

Card 5

Front

What is QF-PCR

Back

Preview of the front of card 5

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