1500例智力障碍儿童染色体核型分析

发布时间：2018-05-18 05:36

本文选题：染色体异常 + 智力障碍　；参考：《中国卫生检验杂志》2014年22期

【摘要】：目的探讨1 500例智力障碍儿童染色体的核型分析。方法常规外周血淋巴细胞培养,制备染色体,采用G显带技术对染色体进行核型分析。结果 1 500例中共发现染色体正常(320条~550条带阶段未见染色体异常)534例,染色体异常966例,占全部受检病例的64.4%(966/1 500),其中各种类型的21三体综合征(Down综合征)884例,占染色体异常核型的91.5%(884/966)。其余异常核型分别涉及到X、Y、1、2、3、5、6、7、8、9、10、12、13、14、15、16、17、18、20、21、22号染色体共82例。结论染色体异常是引起儿童智力障碍的重要原因,而Down综合征又是染色体异常中最主要的原因,达91.5%。因此,做好产前筛查很有必要,可提高异常染色体的检出率,能够有效降低智力低下儿童的出生率,对于提高优生优育具有重要意义。
[Abstract]:Objective to investigate the karyotype analysis of 1 500 children with mental retardation. Methods Peripheral blood lymphocytes were cultured, chromosomes were prepared and karyotype was analyzed by G banding technique. Results there were 534 cases of chromosome abnormality and 966 cases of chromosomal abnormality in 1 500 cases of normal chromosome 320 trisomy 550 bands, which accounted for 64.446 / 1 500% of the total detected cases, including 884 cases with various types of trisomy 21 Down syndrome. 91.5% of the chromosomal aberrations were 884 / 966g. The other abnormal karyotypes were related to the chromosomes of chromosome 22 in 82 cases, and the other abnormal karyotypes were related to the chromosomes Xanthoxia 1, 2, 2, 5, 5, 7, 7, 7, 7, 10, 12, 13, 1, 14, 1, 1, 16, 1, 17, 1, 17, 1, 17, 2, 21, and 22. Conclusion chromosomal abnormality is an important cause of mental retardation in children, and Down syndrome is the most important cause of chromosomal abnormality, reaching 91.5%. Therefore, it is necessary to do well in prenatal screening, which can improve the detection rate of abnormal chromosomes, effectively reduce the birth rate of children with mental retardation, and is of great significance to improve eugenic and eugenic.
【作者单位】：郑州市儿童医院检验科遗传室;
【分类号】：R749.94

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