Cytogenetics Review Questions

List the three broad categories of clinical indications for chromosomal analysis.
Prenatal, Constitutional, Cancer/Acquired

List 5 prenatal indications for cytogenetics analysis.
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Which family members should have chromosomal analysis?
Both parents of a child with structural chromosome rearrangement, deletion, duplication 2) all family members at risk of having a chromosome rearrangement

What are the indications for chromosomal analysis of products of conception?
1)Abortuses (missed abortions) of unknown reason, 2)Malformed stillbirths, 3)Stillbirth of undetermined etiology

Compare amniocentesis and chorionic villus sampling with regards to gestational age, complication rate, turn around time, and false results

What are the clinical indications for tissue sampling instead of blood for cytogenetic analysis?
1)Suspicion of chromosomal mosaicism, 2) blood is not available (e.g. POC), 3) surgical or post-mortem tissue.

List 8 standard techniques for cytogenetics analysis.
1) Geimsa / G-Banding, 2) Quinacrin / Q-banding 3) Reverse / R-banding, 4)Centromere / C-banding, 5)NOR staining (nucleolus organizer regions), 6)DAPI staining, 7) Chromosomal breakage, 8) Sister chromatid Exchange (SCE)

List 5 Molecular cytogenetics techniques.
1)FISH (flourescence in situ hybridization), 2) Multi-colour FISH, 3) SKY (spectral karyotyping), 4) CGH (comparative genomic hybridization), 5) CGH array, 6) S-ISH, 7) D-ISH

What is g-banding?
Chromosomes are treated with trypsine and then stained with Geimsa (or wrights) which darkly stains the GC rich regions of the chromosome.

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