67例染色体罗伯逊易位携带者的细胞遗传学分析  

97 cases of chromosome robertsonian translocation carriers cytogenetic analysis

作　　者：欧阳鲁平 陈少科 雷亚琴 刘天盛 费冬梅 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》2015年第3期39-40,124,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(2012BAI09B04)

摘　　要：目的通过对7816例因反复流产、不孕不育、生长发育迟缓等患者进行外周血染色体检查结果统计分析,进一步探讨染色体罗伯逊易位的临床意义及指导临床治疗。方法采用外周血淋巴细胞染色体培养技术,通过G显带,核型分析。结果外周血染色体检查共计检测出67例染色体罗伯逊易位,其中以Rob(13q14q)和Rob(14q21q)为主,分别占65.6%(44/67)和13.4%(9/67)。结论染色体罗伯逊易位是导致反复流产、不良孕产史、不孕不育和身材矮小等的重要遗传因素。同时染色体罗伯逊易位可遗传给后代,应做好产前诊断。Objective：Through 7816 cases with repeated abortion,infertility,growth retardation in patients with peripheral blood chromosome results of statistical analysis,further explore the clinical significance of chromosome robertsonian translocation and guide clinical treatment. Methods：Peripheral blood chromosome examination with a total of 67 cases with chromosome robertsonian translocation,With rob（13q;14q）and rob（14q;21q）,65.6%（44/67）and 13.4%（9/67）. Conclusion：Chromosome robertsonian translocation is lead to recurrent abortion,abnormal gestation and birth on the basis of,infertility and important genetic factors such as short stature. Chromosome Robertsonian translocation can be passed to their children at the same time,should do well in prenatal diagnosis.

关 键 词：罗伯逊易位 外周血 核型分析 反复流产 

分 类 号：R596.1[医药卫生—内科学]