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目的探讨染色体异常在智力低下、先天畸形和发育异常等病人中的发生情况。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。结果在304例先天性智力低下儿童中,发现染色体异常176例,检出率57.9%。21-三体综合征核型171例,占总检出率的97.2%,其中21-三体标准型159例,嵌合型3例,易位型8例,另见一例46,XO,+21。此外还检出非21-三体核型5例,占总检出率的2.8%。结论染色体异常是产生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孕妇进行产前诊断很有必要。做好遗传咨询,将有助于减少先天缺陷儿的出生。
Objective To investigate the occurrence of chromosomal abnormalities in patients with mental retardation, congenital malformations and dysplasia. Methods The peripheral blood of patients were cultured in lymphocytes, routinely harvested, G banding and karyotype analysis under microscope. Results Among 304 children with congenital mental retardation, 176 cases of chromosomal abnormalities were found, the detection rate was 57.9%. 21 cases of trisomy syndrome karyotype in 171 cases, accounting for 97.2% of the total detection rate, of which 159 cases of 21-trisomy, 3 cases of chimerism and 8 cases of translocation, see also a case of 46, XO, twenty one. In addition, 5 non-21-trisomy karyotypes were detected, accounting for 2.8% of the total. Conclusion Chromosomal abnormalities are the major causes of congenital malformations or mental retardation. It is necessary for these children to undergo chromosome examination and prenatal diagnosis of pregnant women. Good genetic counseling, will help reduce the birth of birth defects.