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目的探讨Y染色体核型变异的临床意义。方法常规外周血细胞培养和染色体标本制备,并对染色体核型进行分析。结果 114例大Y染色体患者中生精异常22例(包括少精、弱精、无精)、外生殖器发育不良2例、其妻习惯性流产56例、胎停育22例、有其他不良孕产史12例(包括出生缺陷、死胎、早产等);男性的不育除性或常染色体结构、数目异常及Y多态性外与性激素水平亦有明显的关系。与正常对照组发生率8.93%相比,差异无显著性。结论大Y染色体会不同程度地导致临床效应。
Objective To investigate the clinical significance of Y chromosome karyotype variation. Methods Peripheral blood cultures and preparation of chromosome specimens were performed. The karyotypes of chromosomes were analyzed. Results In 114 patients with Y chromosome, 22 cases of abnormal spermatogenesis (including oligospermia, weak essence and azoospermia), 2 cases of external genital malformation, 56 cases of habitual abortion and 22 cases of unplanted fetus with other unwanted pregnancies 12 cases of birth history (including birth defects, stillbirth, premature delivery, etc.); men with infertility addition or autosomal structure, number abnormalities and Y polymorphisms and sex hormone levels also have a clear relationship. Compared with the normal control group 8.93%, the difference was not significant. Conclusion Large Y chromosome will lead to different degrees of clinical effect.