摘要
目的通过对2416例不孕不育、有遗传病或家族史以及不良孕产史患者的染色体结果调查,探讨平衡易位与临床效应关系。方法取外周血进行淋巴细胞培养,染色体G显带分析。结果共发现异平衡易位29例(罗伯逊易位5例),占1.20%。结论染色体平衡易位是导致不孕不育、自然流产及死胎、生育异常儿的重要原因之一,对这类人群进行遗传优生和产前诊断及辅助生殖指导等有针对性的检查和临床干预是非常必要的。
Objective：To investigate the relationship between clinical effect and chromosome balanced translocation.Methods：peripheral blood lymphocyte culture for chromosome and G-banding karyotype analysis were studied in 2416 cases of infertility,genetic disease or family history,and adverse pregnant history.Results：29 cases had balanced translocation（including 5 cases of Robertsonian translocation）,abnormal karyotype rate was 1.20%.Conclusion：chromosome balanced translocation is one of the important reasons leading to infertility,abortion,still birth and congenital deformity.Clinical detection and intervention including eugenic advice,prenatal diagnosis and reproductive advice are useful to these population.
出处
《中国优生与遗传杂志》
2013年第6期61-62,共2页
Chinese Journal of Birth Health & Heredity
关键词
遗传咨询
染色体
平衡易位
Genetic counseling
Chromosome
Balanced translocation
