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目的:探讨染色体多态性与临床效应及生殖的关系。方法:对遗传咨询和不孕症患者的外周血采用常规G显带技术进行细胞遗传学分析。结果:1532例患者中检出异常核型163例,其中染色体多态性72例,占异常核型的44.17%。大多数均表现出各种临床效应,与生殖相关的男性主要表现为不育,女性主要表现为流产。不同类型的染色体多态性引起的第一位临床效应是流产,达到50%。结论:染色体多态性与流产、不孕、死胎等生殖异常之间存在相关性,对染色体多态性携带者进行产前诊断是必要的。
Objective: To investigate the relationship between chromosomal polymorphism and clinical effect and reproduction. METHODS: Peripheral blood from patients with genetic counseling and infertility was analyzed for cytogenetics using conventional G-banding techniques. Results: A total of 163 cases of abnormal karyotype were detected in 1532 cases, of which 72 cases were polymorphic, accounting for 44.17% of the abnormal karyotype. Most showed a variety of clinical effects, reproductive-related men mainly for infertility, women mainly for abortion. The first clinical effect caused by different types of chromosomal polymorphisms is abortion, reaching 50%. Conclusion: Chromosomal polymorphisms are associated with reproductive abnormalities such as miscarriage, infertility and stillbirth, and prenatal diagnosis of chromosome polymorphism carriers is necessary.