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Flashcards in Cytogenetics Articles Deck (5)
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1

At what age is amniocentesis routinely recommended and why?

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).

2

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

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

3

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

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

4

Describe spectral karyotyping.

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

5

How does mosaicism arise?

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