广西地区65例罗伯逊易位患者细胞遗传学分析  

Cytogenetic analysis of 65 patients with Robertsonian translocation in Guangxi

作　　者：费冬梅[1] 黄红倩[1] 欧阳鲁平 刘天盛[1] 孙惟佳[1] 欧珊[1] 苏景玉 谢意[1] 

机构地区：[1]广西壮族自治区妇幼保健院,儿童医院广西妇产医院遗传代谢中心实验室,南宁530000

出　　处：《中国优生与遗传杂志》2016年第4期52-53,共2页Chinese Journal of Birth Health & Heredity

基　　金：国家科技支撑计划课题(课题编号:2014BAI06 B03);广西壮族自治区自筹经费课题(课题编号:Z2015237)

摘　　要：目的探讨罗伯逊易位患者对优生优育的影响,从而降低出生缺陷患儿出生。方法采用2012-2014年由我院门诊送检的13 465例外周血标本,通过常规细胞遗传学外周血淋巴细胞培养,G显带,利用染色体分析软件进行核型分析。结果 13 465例遗传咨询患者中,共检出罗伯逊易位65例,检出率为0.48%,就诊患者主要临床表现为习惯性流产,不孕、闭经、无精子症等。结论罗伯逊易位是造成胎儿畸形,智力低下以及反复流产等疾病的主要原因,有不良孕产史的夫妇通过细胞遗传咨询进行生育指导是十分必要的。Objective：In order to decrease birth defects in newborn,this study investigate the effects of Robertsonian translocation on birth health. Methods：13 465 cases of peripheral blood specimens were collected in the outpatient of our hospital during 2012-2014 and were cultured by conventional peripheral blood lymphocyte culture,and G banding were analyzed by karyotype analysis. Results：65 cases of Robertsonian translocation were detected in 13 465 patients,and the detection rate was 0.48%. There are some common clinical manifestations in these patients,e.g. habitual abortion,infertility,amenorrhea and azoospermia. Conclusion：Robertsonian translocation is the major reason causing fetal abnormalities,mental retardation and repeated abortion,it is necessary for couples with abnormal pregnancy to consider genetic counseling.

关 键 词：染色体 罗伯逊易位 遗传咨询 

分 类 号：R596.1[医药卫生—内科学]