世界首报异常染色体核型及其遗传效应分析  

The 5 cases of the first report in the world of chromosome abnormalities karyotype and genetic effect analysis

作　　者：谢小雷[1] 李付广[1] 汤素环[1] 郭晓燕[1] 谭卫荷[1] 

机构地区：[1]广州医科大学附属第六医院.清远市人民医院产前诊断中心,广东清远511518

出　　处：《中国优生与遗传杂志》2017年第8期50-51,共2页Chinese Journal of Birth Health & Heredity

基　　金：清远市科技计划项目编号:2014B024

摘　　要：目的对5例世界首报异常染色体核型遗传效应进行探讨和分析。方法对2015年1月至12月来我院就诊的患有不孕不育、流产和生育异常疾病374例患者,进行外周血染色体核型分析。结果在受检者中共检出27例染色体异常核型,异常发生率为7.2%,其中5例为罕见染色体异常核型,经检索国内外文献未见报道;包括染色体平衡易位4例,臂间倒位1例。结论染色体异常是导致患者不孕不育、流产和生育异常疾病的重要原因。染色体异常核型的检出,对阐明罕见染色体病发病机制以及优生优育的临床指导具有重要意义。Objective：The 5 cases of the first report in the world of the abnormal karyotype genetic effect were discussed and analyzed. Methods：From January to December in 2015,374 cases of patients with infertility,abortion or reproductive disorders were collected in our hospital. The normal peripheral blood culture method were used to analyze the karyotype of the chromosome. Results：27 cases of abnormal karyotypes were detected in the 374 patient samples,and the abnormal rate was about 7.2%,of which 5 cases abnormal karyotypes were never reported at home and abroad,including 4 cases of chromosome balanced translocation and 1 cases of pericentric inversion. Conclusion：Chromosome abnormality is an important cause of infertility,abortion and abnormal fertility disease. It was very significant to clarify the pathogenesis of rare chromosomal diseases and clinical guidance of eugenics because of chromosomal abnormalities detection.

关 键 词：染色体核型 平衡易位 臂间倒位 遗传效应 

分 类 号：R596.1[医药卫生—内科学]