摘要目的: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:1 532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.

abstractsObjective: To study the relationship between autosomal polymorphism and clinical outcome of productive abnormalities. Methods: Chromosomes were prepared from peripheral blood lymphocytes and carried out G/C banding and karyotype analyses to the patients of genetic consultation and infertility. Results: In the 1 532 cases of genetic consultation and infertility, 163 cases had chromosome abnormalities. Among these 163 cases, 72 cases (44.17%) were autosomal polymorphism. Most of polymorphism had even all kinds of different clinical outcomes. Among these outcome, the most biggest clinical outcome was abortion up to 50%. Men's main clinical outcome was infertility, but women's main clinical outcome was abortion. Conclution: These results indicated that clinical effect such as abortion, sterility, silllbirth were mainly related to chromosome polymorphisms, so it is important to carry out prenatal diagnosis to the carrier with chromosome polymorphisms.