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目的总结21495例男性不孕不育患者外周血染色体核型及1079例羊水染色体核型,探讨Yqs的临床效应。方法外周血淋巴细胞培养,G显带高分辨染色体核型分析,羊水细胞培养G显带染色体核型分析,必要时Ag-NOR(核仁形成区)染色分析。结果共发现9例Yqs携带者,其中5例系不孕不育,精液常规检查均未见异常;1例羊水产前诊断证实Yqs为父源遗传,1例不孕不育男性患者Yqs亦为父源遗传。结论 Yqs携带者一般无异常临床表型,与不孕不育无关。
Objective To summarize the peripheral blood chromosomal karyotypes and 1079 cases of amniotic fluid karyotype in 21495 infertile men and discuss the clinical effect of Yqs. Methods Peripheral blood lymphocyte culture, G banding high-resolution chromosome karyotype analysis, amniotic fluid cell culture G banding karyotype analysis, if necessary, Ag-NOR (nucleolus formation zone) staining analysis. Results A total of 9 cases of Yqs carriers were found, of which 5 cases were infertile and had no abnormal semen routine examination. One case of prenatal diagnosis of amniotic fluid confirmed Yqs as fatherly inheritance, and one case of infertility males also had Yqs Parental inheritance. Conclusion Yqs carriers generally have no abnormal clinical phenotype, which has nothing to do with infertility.