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目的观察人类常染色体异染色质变异的临床效应并分析其与生殖异常之间的关系。方法按常规技术方法制备外周血染色体,经G显带(对可疑异染色质做C显带)之后油镜下进行核型分析,并详细记录所检病例的临床表现或生殖情况。结果在我院近3年来就诊的3596例遗传咨询者中检出常染色体异染色质变异95例,占2.64%,其中自然流产及胚胎停育53例(55.79%),不孕不育21例(22.10%),子代异常11例(11.58%),表型或智商异常7例(7.37%)以及正常3例(3.2%)。结论常染色体异染色质变异具有一定的临床效应,可能是引起生殖异常的重要原因之一。
Objective To observe the clinical effect of human autosomal chromosome aberrations and to analyze its relationship with reproductive abnormalities. Methods Peripheral blood chromosomes were prepared by routine techniques. K - banding (C - banding of suspicious heterochromatin) was performed followed by karyotyping under an oil microscope. The clinical manifestations or reproductive status of the cases examined were recorded in detail. Results Of the 3596 cases of genetic counseling who visited our hospital for the past 3 years, 95 cases (2.64%) of the patients had abnormal autosomal aberrations, of which 53 cases (55.79%) were spontaneous abortion and embryo stop, 21 cases were infertile (22.10%), 11 (11.58%) offspring abnormalities, 7 (7.37%) phenotypic or IQ abnormalities and 3 (3.2%) normal. Conclusion Achromatic heterochromatin has some clinical effects, which may be one of the important causes of genital abnormalities.