自Caspersson等[1]于1970年发表第一张人类染色体显带照片以及1971年巴黎国际命名会议以来,现已发现人类染色体数目异常和结构畸变3000余种,染色体病综合征100余个。本文以到本室进行细胞遗传学检查者为研究对象(包括不孕不育症患者及遗传咨询的育龄人群),发现4例首报人类染色体异常核型,报告如下。1资料与方法1.1资料2007年7月～2011年7月到本院就诊者,属于下列情况之一:疑为先天愚型的患儿及其父母;有明显生长发育异常、特别是患有先天畸形者;重复性流产患者及其丈夫;原发性闭经和女性不育症;无精子 Since Caspersson et al [1] published his first human chromosome banding photos in 1970 and the Paris 1971 International Naming Conference, more than 3,000 human chromosome abnormalities and structural aberrations have been found and more than 100 chromosomal disease syndromes have been found. This article to our cytogenetic examination for the study (including infertility patients and genetic counseling of reproductive age), found in 4 cases of the first human chromosome abnormalities karyotype, the report is as follows. 1 Materials and Methods 1.1 Information July 2007 ~ July 2011 to our hospital, are one of the following conditions: the child suspected of Down’s syndrome and their parents; have obvious growth and development abnormalities, especially with congenital Deformity; Reproductive abortion patients and their husbands; Primary amenorrhea and female infertility; Azoospermia