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目的通过对智力低下患儿进行染色体核型分析,了解各种异常染色体对先天性智力低下造成的影响。方法对患者外周血淋巴细胞行染色体常规G显带核型分析。结果在276例患者中,共检出染色体异常核型68例,检出率为24.64%。其中21-三体综合征59例,占异常核型的86.76%;13-三体综合征1例,占异常核型的1.47%;18-三体综合征2例,占2.94%;46,XY,r(22)1例,占异常核型的1.47%;另外涉及性染色体异常5例,占7.35%。结论染色体异常是导致患儿先天性智力低下的重要病因,对患者进行染色体的检查,将有助于临床诊断和治疗,而对孕妇进行产前诊断是预防智力低下患儿出生的有效方法之一。
Objective To understand the effect of various abnormal chromosomes on the congenital mental retardation by analyzing the karyotype of children with mental retardation. Methods Peripheral blood lymphocytes of patients underwent routine G - banding karyotype analysis. Results In 276 patients, 68 cases of chromosomal abnormalities were detected, the detection rate was 24.64%. Among them, 59 cases of 21-trisomy syndrome accounted for 86.76% of the abnormal karyotypes; 1 case of 13-trisomy syndrome accounted for 1.47% of the abnormal karyotypes; 2 cases of 18-trisomy syndrome accounted for 2.94% XY, r (22) in 1 case, accounting for 1.47% of the abnormal karyotype; also involved in 5 cases of sex chromosome abnormalities, accounting for 7.35%. Conclusions Chromosomal abnormalities are the important causes of congenital mental retardation in children. Chromosome examination of patients will be helpful for clinical diagnosis and treatment. Prenatal diagnosis of pregnant women is one of the effective methods to prevent the birth of children with mental retardation .