应用人体染色体技术对疾病作诊断、预防和治疗已成为临床医学的一项重要内容。目前已发现100多种染色体异常疾患,本文就妇科疾患与染色体异常问题作一简述。一、原发性闭经和继发性闭经: 综合国内外文献报道,原发性闭经患者中28.8％有性染色体异常,其中46,XY占8.6％;45,X占11.6％,45,X嵌合体占6.8％;其它核型占1.8％。葛秦生等报告原发性闭经16例,其中9例进行了染色体检查,异常6例(46,XY5例;48,XXXX1例)。V.Niekerk报道77例原发性闭经中染色 Application of human chromosome technology for disease diagnosis, prevention and treatment has become an important part of clinical medicine. So far, more than 100 chromosomal abnormalities have been found. This article gives a brief account of gynecological disorders and chromosomal abnormalities. First, primary amenorrhea and secondary amenorrhea: Comprehensive domestic and foreign literature reports, 28.8% of primary amenorrhea patients have sex chromosome abnormalities, of which 46, XY accounted for 8.6%; 45, X 11.6%, 45, X Fit accounted for 6.8%; other karyotype accounted for 1.8%. Ge Qinsheng report of 16 cases of primary amenorrhea, of which 9 cases were chromosomal abnormalities in 6 cases (46, XY5 cases; 48, XXXX1 cases). V. Niekerk reported 77 cases of primary amenorrhea in the staining