南宁地区41例平衡易位携带者的细胞遗传学分析  

Nanning area 41 cases of cytogenetic analysis of balanced translocation carriers

作　　者：欧阳鲁平 雷亚琴 谢意 陈丹云 郑陈光 

机构地区：[1]广西壮族自治区妇产医院/妇幼保健院,遗传代谢中心实验室,广西南宁530003

出　　处：《中国优生与遗传杂志》2014年第12期38-39,47,共3页Chinese Journal of Birth Health & Heredity

基　　金：十二五国家科技支撑计划项目两项(2012BAI09 B04)

摘　　要：目的通过对2856例反复流产、不良孕产史、不孕不育等患者进行染色体结果调查,探讨染色体平衡易位携带者的临床效应。方法采用外周血淋巴细胞染色体培养技术,G显带,核型分析。结果 41例染色体平衡易位携带者中,男性21例,女性20例,常-常染色体易位39例,其中包括3例罗伯逊易位;性-常染色体易位2例。主要临床表现为女性反复自然流产、不良孕产史等;男性少弱精子症及不育等。结论染色体平衡易位是导致反复流产、不良孕产史、男性少弱精子症、不育等的重要因素之一。对于这些有反复流产史、不良妊娠史、不孕不育的临床患者,进行外周血染色体核型分析十分必要。Objective： Based on 2856 cases of recurrent abortion, abnormal gestation and birth on the basis of, such as infertility patients with chromosome investigation as a result, to explore the clinical effect of chromosome balanced translocation carriers.Methods： The peripheral blood lymphocyte chromosome cultivation technology, G banding karyotype analysis.Results： 41 cases of chromosome balanced translocation carriers, 21 cases of men and women in 20 cases, often - often chromosome translocation 39 cases, including 3 cases of robertsonian translocation; Sex - autosomal translocation in 2 cases. Major clinical manifestations for women repeated spontaneous abortion, abnormal gestation and birth on the basis of; Such men less weak sperm disease and male sterility.Conclusion： Chromosome balanced translocation is lead to recurrent abortion, abnormal gestation and birth on the basis of, men less weak sperm disease, infertility, etc of recurrent miscarriage, adverse pregnancy patients with clinical history, analysis is necessary. One of the important factors. For those with a history infertility, peripheral blood chromosome karyotype

关 键 词：平衡易位 染色体 不良孕产史 

分 类 号：R596.1[医药卫生—内科学]