儿童性染色体异常的研究  

Study on abnormality of sex chromosome in children

作　　者：何军[1] 夏飞[1] 冯星[2] 何亚香[2] 肖志辉[2] 陈亚平 高锦声[4] 

机构地区：[1]苏州大学附属第一医院.江苏省血液研究所,215006 [2]苏州大学附属儿童医院儿科研究所 [3]苏州母婴保健中心 [4]苏州大学医学院优生优育中心

出　　处：《中国妇幼保健》2005年第12期1511-1512,共2页Maternal and Child Health Care of China

基　　金：江苏省卫生厅科技发展基金(H200324)

摘　　要：目的:研究儿童性染色体异常及产前诊断性染色体异常。方法:采用外周血染色体G带核型分析、荧光原位杂交(FISH)技术对62例儿童性染色体异常患儿进行分析。结果:62例儿童性染色体异常中,Turner氏综合征31例,3X综合征1例;真两性畸形3例,女性假两性畸形11例,男性假两性畸形4例;XXY综合征3例,XYY综合征3例,46,X,del(Yq)2例,男性Turner氏综合征1例,49,XXXXY1例,92,XXYY/46,XY1例。结论:Turner氏综合征是儿童性染色体异常中最常见的类型。应用染色体核型分析和荧光原位杂交技术,同时结合围产期超声检查进行产前诊断,可筛选性染色体异常患儿。Objective:To investigate abnormality of sex chromosome in children and its prenatal diagnosis.Methods:With karyotype analysis (G band )and fluorescence in situ hybridization(FISH ) , 62 chidren with abnormal sex chromosome were analyzed.Results:Among these 62 chidren, 31 cases with Turner's syndrome, 1 case superfemale syndrome, 3 cases true hermaphroditism, 11 cases female pseudohermaphroditism, 4 cases male pseudohermaphroditism, 3 cases XXY syndrome, 3 cases XYY syndrome, 2 cases 46,X,del(Yq), 1 case male Turner's syndrome, 1 case 49,XXXXY and 1 case 92,XXYY/46,XY.Conclusion:Turner's syndrome is the most common abnormality of sex chromosome in children. Combined with ultrasonic examination in perinatal stage, karyotype analysis and FISH can help to screen those chidren with abnormal sex chromosome.

关 键 词：儿童 性染色体 异常 

分 类 号：R715[医药卫生—妇产科学]