【摘要】 目的探讨人类染色体结构多态性与生殖异常的临床效应的关系。方法对来我院进行遗传咨询者进行常规的外周血淋巴细胞培养,G显带及染色体核型分析。结果 1802例染色体核型分析,检测出53例染色体多态性变异。多态性变异包括D、G组短臂增长5例,次缢痕增长(包括1、9和16号染色体)16例,大Y染色体和小Y染色体10例,9号染色体臂间倒位20例。结论人类染色体多态性可能导致生殖异常,与流产、不孕不育、死胎、生育畸形儿等有相关性。更多还原

【Abstract】 Objective: To study the relationship between chromosome polymorphism and clinical effect of reproductive abnormalities. Methods: The peripheral blood lymphocytes of the patients who came in for genetic counseling were prepared for G banding and karyotype analyses. Results: In total of all 1802 cases,Karyotype variations included 10 cases of satellite increases in the D / G group, 16 cases of secondary constriction increases,10 cases of big or small Y chromosome and 20 cases of pericentric inversion of chromosome 9. Conclusion: These results indicated that clinical effect such as abortion,sterility,stillbirth and congenital malformation are mainly related to chromosome polymorphisms.更多还原