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目的探讨染色体异常在智力低下、发育落后、生长缓慢和发育异常的患儿中的临床意义。方法取患者外周血进行淋巴细胞培养,常规制片,G显带进行染色体核型分析。结果在158例先天性智力低下儿童中,发现染色体异常56例,异常检出率为35.443%;其中常染色体异常41例,占异常数的73.214%,性染色体异常核型4例,占异常数7.143%,染色体多态性11例,占异常数19.643%。结论先天性智力低下与染色体异常密切相关,对遗传咨询的患儿应进行染色体检查,及早明确病因,以免盲目诊治。
Objective To investigate the clinical significance of chromosomal abnormalities in children with mental retardation, development retardation, slow growth and dysplasia. Methods Peripheral blood of patients was used for lymphocyte culture, routine preparation and G banding for karyotype analysis. Results Of 158 children with congenital mental retardation, 56 cases were found chromosomal abnormalities, the rate of abnormal detection was 35.443%. There were 41 cases of autosomal abnormalities, accounting for 73.214% of abnormal numbers, 4 cases of abnormal chromosomal abnormalities 7.143%, 11 cases of chromosome polymorphism, accounting for 19.643% of the anomalous number. Conclusions Congenital mental retardation is closely related to chromosomal abnormalities. Chromosome examination should be conducted in children with genetic counseling and the cause should be identified as soon as possible to prevent blind diagnosis and treatment.