243例精神发育迟滞儿童的细胞遗传学研究

A CYTOGENETICAL RESERCH OF 243 CHILDREN WITH MENTAL RETARDATION

目的 :研究精神发育迟滞儿童与细胞遗传学的关系。方法 :取被检查者外周血作标本 ,GTG显带。每例计数 30～ 6 0个分裂相 ,按 1 10进行核型分析 ,必要时按人类高分辨染色体方法和改良C显带技术。结果 :2 43例精神发育迟滞患儿有异常核型 5 0例 ,异常率为 2 0 6 %。结论 :为预防精神发育迟滞患儿的出生 。

OBJECTIVE:To investigate the relationship between mental reardation and cytogenetic. METHOD: Conducted GTG-banding, or human high resolutiom banding and modified C-banding if necessary with peripheral blood. Countd 30 to 60 P hases and analysed the karyotypes of 1/10 among all of the split phases.RESULTS:There were 50 abnormal karyotypes in the 243 children with mented retardation and the abnormal rate was 20.6%. CONCLUSION: It was important to underway the genetics checking for the children with rnental retardation and their parents to prevent the disease.