【摘要】 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,R显带,显微镜下进行核型分析。结果:在63例先天性智力低下儿童中,发现染色体异常34例,检出率53.97%。21-三体综合征核型32例,占总检出率的94.12%,其中21-三体标准型22例,嵌合型6例,易位型4例。此外还检出非21-三体核型2例,占总检出率的5.88%。结论:先天性智力低下与染色体核型异常密切相关;表明染色体异常多伴有多发畸形及智力低下。做好遗传咨询,将有助于减少先天缺陷儿的出生。更多还原

【Abstract】 Objective: To analysize the distribution of the chromosome aberration among the cases of low intelligence, congenital deformity and abnormal growth. Methods: Culture the blood in culture medium for lymphocyte and collect the cells in routine procedure, then analyze the karyotypes by R-banding technique. Results: The chromosome aberration was found in 34 of 63 cases for low intelligenct children.The rate of abnormality was 53.97% .among 34 cases,22 cases were trisomy 21, 6 cases were mosaic and 4 were translocation.in addition to, 2 cases were no-trisomy 21,the rate was 5.88% . Conclusion: The congenital mentalretardation is nearly related with the abnormity karyotype of chromosome. The chromosome aberration are likely with frequently-occurring abnormality and low intelligence . In order to lower the birth of congenital disease an improve the quality of population, it is necessary to develop the genetic counseling.更多还原