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染色体数目或结构异常所致的疾病称为染色体病。染色体核型分析(即染色体检查)是确诊染色体病的主要方法。自Caspersson等于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。因此染色体检查十分重要。 一、资料和方法 1.对象 我室自1986年～1999年,已为4140例遗传咨询者及其他相关患者进行了外周血染色体检查。受检者一般属于下列情况之一:疑为先天愚型的患儿及其父母;有明显生长发育异常、智力低下、特别是伴有先天畸形者;多发性流产患者及其丈夫;
Chromosome number or structural abnormalities caused by the disease called chromosome disease. Chromosomal karyotyping (ie chromosomal examination) is the main method for the diagnosis of chromosomal disease. Since Caspersson was equal to the first human chromosome banding photos published in 1970 and the International Naming Conference in Paris in 1971, more than 3,000 human chromosome abnormalities and structural aberrations have been found and more than 100 chromosomal disease syndromes have been found. Therefore, chromosomal examination is very important. First, the data and methods 1 object My room from 1986 to 1999, has 4140 cases of genetic counseling and other related patients had a peripheral blood chromosome examination. Subjects generally fall into one of the following conditions: children with suspected obesity and their parents; patients with significant growth and mental retardation, mental retardation, especially those with congenital malformations; multiple abortion patients and their husbands;