Cytogenetics Articles Flashcards

1
Q

At what age is amniocentesis routinely recommended and why?

A

At maternal age 35, as the risk of trisomy at this age (1:270) approximately matches the risk of miscarriage due to amniocentesis (1:200).

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2
Q

Review: How are biochemical markers shifted in down syndrome and edward syndrome?

A

Down: -AFP, -UE3, +hCG
Edwards: -AFP, -UE3, -hCG

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3
Q

What genetic feature do Fanconi anemia, Bloom syndrome, and ataxia telangiectasia have in common?

A

All result in increased chromosome breakage (eg abnormalities of DNA repair mechanisms)

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4
Q

Describe spectral karyotyping.

A

eg. M-FISH or SKY method; allows for tagging of all chromsomes simultaneously with different fluorescent probes. Used when conventional methods cannot identify chromosomes.

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5
Q

How does mosaicism arise?

A

Chromosomal change that occurs during embryonic development, resulting in two or more “clones” or lineages of cells.

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