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目的通过对新疆地区720例遗传咨询者的外周血淋巴细胞染色体检查,探讨染色体异常与妊娠胎儿丢失、不孕不育、智力低下、性发育异常、原发闭经等的关系。方法采用外周血淋巴细胞培养方法、常规制备染色体标本,G显带技术进行细胞遗传学分析。结果检出异常核型147例,染色体异常检出率为20.4%。其中,常染色体数目异常29例,常染色体结构异常37例,性染色体异常11例,染色体多态性变异71例。结论染色体异常是造成自然流产、死胎、智力低下、不孕不育、原发闭经等的重要原因。对遗传咨询者进行外周血淋巴细胞染色体检查非常必要,可为产前诊断和优生提供科学依据。
Objective To investigate the relationship between chromosomal abnormalities and fetal loss in pregnancy, infertility, mental retardation, sexual dysplasia, primary amenorrhea and so on by examining the peripheral blood lymphocyte chromosomes of 720 genetic counselors in Xinjiang region. Methods Peripheral blood lymphocyte culture method, routine preparation of chromosome specimens, G banding technique for cytogenetic analysis. Results 147 cases of abnormal karyotype were detected, the detection rate of chromosomal abnormalities was 20.4%. Among them, there were 29 cases with an autosomal abnormality, 37 cases with an autosomal abnormality, 11 cases with sex chromosome abnormality and 71 cases with polymorphic variation. Conclusion Chromosomal abnormalities are the main causes of spontaneous abortion, stillbirth, mental retardation, infertility, primary amenorrhea and so on. Genetic counseling for peripheral blood lymphocyte chromosome examination is necessary, for prenatal diagnosis and eugenics provide a scientific basis.