Clinically relevant chromosomal abnormalities and chromosomal polymorphisms in 7,530 patients undergoing reproductive genetic counseling: a retrospective cytogenetic study in a Chinese Han population.

In 7,530 Chinese Han patients undergoing reproductive genetic counseling, peripheral blood karyotyping found clinically relevant chromosomal abnormalities in 3.27% (246/7,530), distinguishing them from polymorphisms.

• Why it matters: Benign chromosomal polymorphisms can obscure the diagnostic yield of karyotyping, complicating how reproductive genetic findings are interpreted for clinical decision-making.
• What they did: From January 2016 to December 2022, peripheral blood karyotyping with lymphocyte culture and G-banding classified cytogenetic results into clinically relevant abnormalities versus polymorphisms, with correspondence analysis linking phenotypes to representative karyotypes.
• The result: Overall abnormal cytogenetic findings occurred in 7.33% (552/7,530), with polymorphisms comprising 4.06% and 55.43% of abnormalities; phenotype–karyotype associations were non-random (chi-square = 69.92, df = 16, P < 0.001).

AI summary of the abstract · may contain errors · not medical advice · read the paper.