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130例智力低下儿童脆性X检测报告
引用本文:王怀立,刘松茂,高铁铮,王应太WANG Huai-Li,LIU Song-Mao,GAO Tie-Zheng,WANG Ying-Tai.130例智力低下儿童脆性X检测报告[J].遗传,1995,17(5):11-13.
作者姓名:王怀立  刘松茂  高铁铮  王应太WANG Huai-Li  LIU Song-Mao  GAO Tie-Zheng  WANG Ying-Tai
作者单位:1.河南医科大学第一附属医院儿科, 郑州 450052 2.河南省人民医院,郑州 450052 1.Department of Pediatrics,the First Affiliated Hospital,Henan Medical University,Zhengzhou 450052 2.The people’s Hospital of Henan Province,Zhengzhou 450052
摘    要: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.

关 键 词:儿童  Key  words  Fra  (X)  Mental  retardation  脆性X  智力低下  GUS融合基因  瞬间表达  水稻  蜡质基因  基因枪轰击  

The Report of Fra( X) Detection to 130 Mentally Retarded Children
WANG Huai-Li,LIU Song-Mao,GAO Tie-Zheng,WANG Ying-Tai.The Report of Fra( X) Detection to 130 Mentally Retarded Children[J].Hereditas,1995,17(5):11-13.
Authors:WANG Huai-Li  LIU Song-Mao  GAO Tie-Zheng  WANG Ying-Tai
Abstract:
Keywords:GUS chimeric gene  Transient expresion  Particle gun bombardment  Waxy gene
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