105种人类染色体新核型的细胞遗传学报道

发布时间：2018-05-28 13:25

本文选题：核型 + 生育异常　；参考：《遗传》2013年07期

【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。
[Abstract]:In order to explore the genetic effect of abnormal chromosomes, cell culture, G banding and C banding were used to name the karyotype according to the international naming system of human genetics (ISCN 2009). The cytogenetics and clinical analysis of the new karyotype detected in the Guangxi Zhuang Autonomous Region maternal and child health care hospital from January 2009 to July 2012 were examined. 105 new types of human chromosome karyotypes were detected. There were 86 cases of translocation, 10 inverted cases, 6 derived chromosomes, 1 repetitive chromosomes, 1 equal arm chromosomes, 1 cases of partial duplication and deletion. The results showed that chromosomal abnormalities were caused by diseases such as abortion, infertility, congenital malformation, mental retardation, amenorrhea and so on. Important reasons.
【作者单位】：广西壮族自治区妇幼保健院广西壮族自治区儿童医院;
【分类号】：R394

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