新疆地区132例低智儿童的染色体核型分析

目的对132例智力低下儿童进行染色体核型分析，探讨导致儿童智力损伤的可能因素。方法采用G-带分析和荧光原位杂交（FISH）技术，对132例智力低下的儿童进行染色体核型分析，结合儿童的相关临床特征，探讨导致儿童智力低下的常见因素。结果在132例核型分析样本中，检出核型异常患儿39例，包括21-三体综合征26例、22-三体综合征1例、X-脆性染色体3例、Klinefelter综合征3例、Turner综合征4例、4号环状染色体综合征和罗氏易位伴衍生染色体各1例。结论染色体异常是导致新疆儿童先天性智力低下的重要遗传学因素。

Karyotyping analysis of 132 children with mental retardation.

Objective： To analyze the karyotypes of 132 childrens with mental retardation （MR） and to investigate possible reasons that result in MR of childrens in Xinjiang. Methods： Chromosomal G - band analysis and fluorescence in situ hybridization （FISH） were used to analyze the karyotypes of 132 childrens with MR, and in combination with the clinical characteristics, the possible reasons that result in MR of ehildrens in Xinjiang were discussed. Results： A total of 39 individuals including 26 childrens with trisomy 21, 1 case with trisomy 22, 3 cases with fragile X, 3 cases with Klinefeher syndrome, 4 cases with Turner syndrome, 1 case with ring chromosome 4 syndrome and 1 child with der （ 14 ; 21 ） , ＋ mar, were identified successfully in the 132 ehildrens, respectively. Conclusion： Chromosomal aberrations are main reasons for children＇s MR in Xinjiang.