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目的探讨Y染色体多态性与临床疾病的关系,为临床遗传咨询及诊疗提供理论依据。方法外周血淋巴细胞G显带技术,显微镜下进行染色体核型分析。结果检出153例Y染色体呈多态性,其中大Y染色体111例,小Y染色体42例,临床症状主要包括其配偶自然流产、胚胎停育、生育畸形儿、智力低下儿等不良孕产史、无(少)精子症、原发不育、性腺发育不良等。结论 Y染色体多态性与其配偶自然流产、胚胎停育、生育畸形儿、智力低下儿等不良孕产史、无(少)精子症、原发不育、性腺发育不良等临床疾病之间存在着一定的关联,不能忽视其临床效应。
Objective To investigate the relationship between Y chromosome polymorphism and clinical diseases and provide theoretical basis for clinical genetic counseling and diagnosis. Methods Peripheral blood lymphocytes G banding technology, microscopy karyotype analysis. Results A total of 153 cases of Y chromosome polymorphism were detected, including 111 cases of large Y chromosome and 42 cases of small Y chromosome. Clinical symptoms mainly included spouse spontaneous abortion, embryo suspension, maternal malformation, and mental retardation , No (less) sperm disease, primary infertility, gonadal dysgenesis and so on. Conclusion There is a relationship between Y chromosome polymorphism and other clinical diseases such as spouse spontaneous abortion, embryo stop, deformity of childbearing, mental retardation and other poor maternal history, no (less) sperm syndrome, primary infertility and gonadal dysplasia A certain relationship, we can not ignore the clinical effect.