130例智力低下儿童脆性X检测报告

本文采用脆性 X检测技术对130例先天性智力低下儿童进行了细胞遗传学研究,结果共发现27例具有染色体异常。其中t(5;15)及t(8;12),inv(9)两例核型,经鉴定为世界首报核型;检出5例脆性X综合征,检出率为3.77%,占异常核型的18.5%。 Abstract:The cytogenetic study was made on 130 mentally retarded children with the technique of Fra(X) detection.Among the 27 mentally retarded children with chromosomal abnormalities found in the study,the two karyotypes of t (5;15) and t (8;21),inv(9) were first reported in the literature.of the 130 mentally retarded cases,5 had fragile (X) syndrome (3.77%).The syndrome accounted for 18.5% in the abnormal karyotypes.