Question:

Why is it important to examine enough cells during cytogenetic analysis?

Answer:

Specimens for cytogenetic analysis can be obtained for routine analysis from the peripheral blood, in which case T lymphocytes are examined; from amniotic fluid for culture of amniocytes; from trophoblastic cells from the chorionic villus; from bone marrow; from solid tumors; and from cultured fibroblasts, usually obtained from a skin biopsy. Enough cells must be examined so that the chance of missing a cytogenetically distinct cell line (a situation of mosaicism) is statistically low. For most clinical indications, 20 mitoses are examined and counted under direct microscopic visualization, and two are photographed or digitalized and karyotypes are prepared. Observation of aberrations usually prompts more extended scrutiny, and in many cases, further analysis of the original culture.

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