105种人类染色体新核型的细胞遗传学报道.pdf

HEREDITAS (Beijing) 2013 年 7 月, 35(7): 885―889 ISSN 0253-9772 研究报告 DOI: 10.3724/SP.J.1005.2013.00885 105 种人类染色体新核型的细胞遗传学报道 欧珊, 杜娟, 陈少科, 郑陈光, 蒙达华, 张海燕, 邱庆明, 刘天盛, 唐斌 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 摘要: 为了探讨异常染色体的遗传效应, 采用细胞培养、G 显带及 C 显带的方法, 根据人类遗传学国际命名体 制(ISCN 2009)对染色体核型命名, 对 2009 年 1 月至 2012 年 7 月就诊广西壮族自治区妇幼保健院检出的新核型 进行细胞遗传学及临床分析。在受检者中检出 105 种人类染色体新核型, 经检索国内外文献未见报道。其中易 位 86 例, 倒位 10 例, 衍生染色体 6 例, 重复染色体 1 例, 等臂染色体 1 例, 部分重复和缺失 1 例。结果显示, 染 色体异常是导致流产、不孕不育、先天畸形、智力低下、闭经等疾病的重要原因。 关键词: 核型; 生育异常; 产前诊断 Cytogenetic analysis of 105 new human abnormal karyotypes OU Shan, DU Juan, CHEN Shao-Ke, ZHENG Chen-Guang, MENG Da-Hua, ZHANG Hai-Yan, QIU Qing-Ming, LIU Tian-Sheng, TANG Bin Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Nanning 530003, China Abstract: To analyze the genetic effect of the abnormal chromosome karyotype, we summarized and studied the clinical data of the new abnormal karyotypes diagnosed at the Guangxi Zhuang Autonomous Region Women and Children Care Hospital from January 2009 to July 2012. The samples were cultured routinely for the karyotype analysis using G banding and C banding. Chromosomal aberrations were named according to the International System for Human Cytogenetic No- menclature (ISCN 2009). Among tested samples, 105 new human abnormal karyotypes were identified (86 reciprocal trans- location, 10 chromosomal inversion, six derivative chromosome, one duplication, one isochromosome, one partial trisomy and monosomy). The results suggest that chromosomal abnormalities were a major cause of miscarriage, infertility, con- genital abnormalities, mental retardation and amenorrhea in humans. Keywords: ka