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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。
Objective To investigate the association between chromosomal abnormalities and mental retardation by analyzing cytogenetic analysis of 260 cases of genetic counseling in children with mental retardation so as to facilitate the effective preventive intervention. Methods The peripheral blood of patients were cultured in lymphocytes, routinely harvested, G banding and karyotype analysis under microscope. Results Of the 260 children with mental retardation, 108 cases were found chromosomal abnormalities with a total detection rate of 41.54% (108/260). Abnormalities in simple type 21 trisomy syndrome in 50 cases, the detection rate was 46.29% (50/108); structural abnormalities were detected in 11 cases, the detection rate was 10.18% (11/108). Chromosome polymorphism was detected in 10 cases, the detection rate was 3.85% (10/260). Conclusion Chromosomal abnormalities are the major causes of congenital malformations or mental retardation. It is necessary to carry out chromosome examination and prenatal screening for pregnant women, which can increase the detection rate of abnormal chromosomes and reduce the birth rate of children with mental retardation , To improve eugenics is of great significance.