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5774例临床生育不良者异常染色体核型分析及32种人类染色体新核型报告
引用本文:覃靖,郑陈光,杜娟,陈科,田晓先,相蕾,孙亮,杨泽.5774例临床生育不良者异常染色体核型分析及32种人类染色体新核型报告[J].遗传,2009,31(2):142-146.
作者姓名:覃靖  郑陈光  杜娟  陈科  田晓先  相蕾  孙亮  杨泽
作者单位:1. 广西壮族自治区妇幼保健院,广西壮族自治区儿童医院,南宁,530003
2. 卫生部北京医院,卫生部老年医学研究所,北京,100730
基金项目:国家自然科学基金,国家重点基础研究发展规划(973计划),国家人类遗传资源共享平台建设项目 
摘    要:为了探讨异常染色体核型在临床生育不良人群中的分布及其与临床生育结局的关系, 采用常规方法制备外周血淋巴细胞染色体, 经G显带, 对 5 774例临床生育不良者做了外周血染色体核型分析, 检查出异常核型550 例。其中三体核型 255 例占 46.36%, 相互易位 91 例占 16.55%, 染色体倒位 85 例占 15.45%, 染色体缺失 81 例占 14.73%, 罗伯逊易位21例占3.82%, 短臂增加7例占1.27%, 大丫6例占1.09%, 随体异常4例占0.73%。其中 32 例为首次报道的新核型。其临床结局有流产、不育、先天畸形等。结果表明携带异常核型染色体, 可能是影响生育的重要原因之一。

关 键 词:新核型  异常核型  染色体  临床生育不良
收稿时间:2008-05-28
修稿时间:2008-07-22

Analysis of the chromosomal abnormality in 5774 patients with clinical reproductive abnormality and 32 new karyotypes
QIN Jing,ZHENG Chen-Guang,DU Juan,CHEN Ke,TIAN Xiao-Xian,XIANG Lei,SUN Liang,YANG Ze.Analysis of the chromosomal abnormality in 5774 patients with clinical reproductive abnormality and 32 new karyotypes[J].Hereditas,2009,31(2):142-146.
Authors:QIN Jing  ZHENG Chen-Guang  DU Juan  CHEN Ke  TIAN Xiao-Xian  XIANG Lei  SUN Liang  YANG Ze
Affiliation:1. Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Nanning 530003, China;
2. Institute of Geriatrics and Beijing Hospital, Minstry of Health, Beijing 100730, China
Abstract:To study the relationship between chromosomal abnormality and clinical ending events of reproductive abnor-mality, G-banding and karyotype analyses were carried out by using chromosome preparations from peripheral blood lym-phocytes. Out of 5 774 cases with reproductive abnormality, 550 individuals had chromosomal abnormalities. Among them, 255 cases (46.36%) were trisomy, 91 cases (16.55%) were reciprocal translocation, 85 cases (15.45%) were chromosomal inversion, 81 cases (14.73%) were deletions, 21 cases (3.82%) were Robertsonian translocation, 7 cases (1.27%) were short arm increment, 6 cases (1.09%) were Y chromosome increment and 4 cases (0.73%) were abnormal satellites. Thirty-two cases with novel chromosomal abnormality karyotypes in them, being complicated by miscarriage, sterility, and congenital malformation, were firstly reported. The results suggested that chromosomal abnormality could be the one of main factors related to the bad reproductive ending events.
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