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目的探讨儿童先天性智力低下与染色体异常的关系及异常核型的类型和频率。方法对临床诊断为智力低下、发育落后、先天愚型等的儿童进行外周血细胞培养,G显带染色体核型分析。结果在368例先天性智力低下儿童中,发现染色体异常核型230例,检出率为62.50%。其中21-三体综合征核型227例,检出率为61.68%,非21-三体核型3例,检出率为0.82%。21-三体综合征中21-三体型213例,占总检出率的57.88%;易位型8例,占总检出率的2.17%;嵌合型6例,占总检出率1.63%。非21-三体核型中K linefelter综合征1例、7p部分三体综合征1例、6q部分三体综合征1例。结论先天性智力低下与染色体异常密切相关,异常核型以21-三体型为主,其次为易位型和嵌合型,但同时存在非21-三体核型。
Objective To investigate the relationship between congenital mental retardation and chromosomal abnormalities in children and the types and frequencies of abnormal karyotypes. Methods Peripheral blood cell culture was performed on children with clinically diagnosed as mental retardation, underdevelopment, or idiotypod. G - banding karyotype analysis was performed. Results Among 368 children with congenital mental retardation, 230 cases of chromosomal abnormal karyotype were found, the detection rate was 62.50%. Among them, 227 karyotypes of 21-trisomy syndrome were detected, with a detection rate of 61.68% and 3 cases of non-trisomy 3. The detection rate was 0.82%. Twenty-one patients in 21-trisomy group had 213 cases of 21-trisomy, accounting for 57.88% of the total, 8 cases of translocation, accounting for 2.17% of the total, 6 cases of chimerism accounting for 1.63 %. 1 case of K linefelter syndrome in non-21-trisomic karyotype, 1 case of partial trisomy 7p, and 1 case of partial trisomy 6q. Conclusions Congenital mental retardation is closely related to chromosomal abnormalities. Abnormal karyotypes are mainly 21-trisomy, followed by translocation and chimerism, but non-21-trisomy karyotype is present at the same time.