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目的探讨染色体异常在智力低下、先天畸形或发育异常患儿中的发生情况。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500例发育异常儿童中,发现染色体异常271例,检出率54.2%。21-三体综合征核型249例,占总检出率的91.8%,此外还检出其他染色体异常核型22例,占总检出率的8.2%。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 children with mental retardation, congenital malformations or dysplasia. Methods The peripheral blood of patients were cultured in lymphocytes, routinely harvested, G banding and karyotype analysis under microscope. Results In 500 cases of dysplastic children, chromosomal abnormalities were found in 271 cases, the detection rate was 54.2%. There were 249 karyotypes of 21-trisomy syndrome, accounting for 91.8% of the total, and 22 cases of other chromosomal abnormalities were detected, accounting for 8.2% of the total. Conclusions Chromosomal abnormalities are the main causes of congenital malformations or mental retardation. It is necessary to carry out chromosome examination and prenatal diagnosis in pregnant women. Good genetic counseling, will help reduce the birth of birth defects.