目的对身材矮小的儿童群体进行细胞遗传学方向的分析,探讨儿童身材矮小与染色体异常的关系。方法对2250例身材矮小症患者患儿进行染色体核型分析结果 923例伴有染色体异常,其中,女性921例,男性2例。其中涉及性染色体异常的910例、涉及常染色体异常的13例;嵌合型核型501例、完全型409例。 Objective To analyze the direction of cytogenetics in short stature children and explore the relationship between short stature and chromosomal abnormalities in children. Methods Chromosomal karyotype analysis was performed in 2250 children with short stature. 923 cases were found to have chromosomal abnormalities, including 921 females and 2 males. Among them, 910 cases involved sex chromosome abnormalities, 13 cases involved autosomal abnormalities; 501 cases were chimeric karyotypes and 409 cases were complete types.