郑州地区666例智力障碍儿童异常染色体核型分析  

Children with abnormal karyotype analysis of 666 cases of mental retardation

作　　者：赵鼎[1] 李瑞[1] 

机构地区：[1]郑州市儿童医院检验科遗传室,郑州450053

出　　处：《中国优生与遗传杂志》2013年第12期68-68,23,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨666例智力障碍儿童异常染色体的核型分析。方法常规外周血淋巴细胞染色体检查。结果与结论1014例中共发现染色体正常(320-550条带阶段未见染色体异常)的350例,染色体异常666例,占全部受检病例的65.7%(666/1014),其中各种类型的21三体综合征(Down's)644例,占染色体异常核型的96.7%(644/666),其中有1例47,XY,+21,t(2;5)为世界首报核型。其余异常核型分别涉及到2、3、5、7、8、9、10、12、13、14、15、16、18、22号染色体共20例。表明引起儿童智力障碍染色体异常是重要原因,而Down's综合征又是染色体异常中最主要的原因,达96.7%。Objective： To study the karyotype analysis of 666 cases of mental retardation of children with abnormal chromosome. Methods ： Peripheral blood lymphocyte chromosome examination. Results and Conclusions ： 1014 cases were found normal chromosome （320 -550 band stage no abnormal chromosome） in 350 cases, 666 cases of chromosomal abnormalities, accounted for 65.7% （666/ 1014）, in which various types of trisomy 21 syndrome （Down ＇s） in 644 cases, accounting for abnormal karyotype of chromosome 96.7% （644/666）, including 1 cases of 47, XY, ＋ 21, t （2 ; 5 ） is first reported. Other abnormal karyotype were related to the 2, 3, 5, 7, 8, 9, 10, 12, 13, 14, 15, 16, 18, a total of 20 cases of chromosome 22. That cause chromosome abnormality is an important cause of mental retardation children, while Down＇s syndrome is the most common cause of abnormal chromosome, 96.7%.

关 键 词：染色体异常 智力障碍 Down’s综合征 

分 类 号：R749.94[医药卫生—神经病学与精神病学]