Abstract: Objective To analyse the incidence of abnormal karyotype of the mental retardation (MR) children in Qiqihar area. Method A total of 260 cases of MR children were used peripheral blood cell culture method and G banding karyotype detection. Results Among 260 cases of MR children,abnormal karyotypes detection rate was 41.54%(108/260).Among them,standard 21-trisomy syndrome:50 cases,detection rate was 46.29%(50/108).Strueutarl abnormalities of 11 cases were detected with detection rate of 10.18% (11/108). Conclusions MR children and abnormal karyotypes are closely related,mainly with abnormal karyotype of chromosome 21-trisomy syndrome.It is important to analyze the chromosome karyotype of the MR of children.

Key words: abnormal karotype, mental retardation, Down syndrome

摘要： 目的 通过对260例遗传咨询有智力障碍儿童的细胞遗传学分析,探讨染色体异常与智力发育障碍的关联效应,便于采取有效的预防干预措施。方法 取患者外周血进行淋巴细胞培养,常规收获,G显带,显微镜下进行核型分析。结果 260例智力障碍儿童中,发现染色体异常108例,总检出率 41.54%(108/260)。 异常者中单纯型21-三体综合征50例,检出率46.29%(50/108);结构异常检出11例,检出率为10.18%(11/108)。检出染色体多态10例,检出率为3.85%(10/260)。结论 染色体异常是导致先天畸形或智力低下的重要原因,对此类患儿进行染色体检查和对孕妇进行产前筛查非常必要,可提高异常染色体的检出率,能够有效降低智力障碍儿童的出生率,对提高优生优育具有重要意义。

关键词: 染色体异常, 智力障碍, Down综合征