贵阳地区染色体疾病儿童的染色体核型分析  

Analysis of Chromosomal Karyotype in 270 Chromosome Disease Children of Guiyang

作　　者：余蕾[1] 杨国珍[1] 王碧[1] 夏曙华[1] 程树强[1] 王荔平[1] 

机构地区：[1]贵州医科大学附院产前诊断中心,贵州贵阳550004

出　　处：《贵阳医学院学报》2015年第11期1170-1171,1175,共3页Journal of Guiyang Medical College

基　　金：国家级教学团队项目[教高函(2009)18号]

摘　　要：目的:探讨贵阳地区染色体疾病儿童的染色体核型特点。方法:以贵阳地区某三甲医院就诊,临床表现为智能低下、生长发育迟滞、先天畸形、特殊表型等270例儿童为研究对象,采集其外周血进行染色体核型分析。结果:270例儿童中,确诊染色体异常核型101例,异常检出率为37.41%(101/270),其中常染色体异常核型83例,占总检查数30.74%(83/270),占异常数82.18%(83/101);性染色体异常核型18例,占总检查数6.67%(18/270),占异常数17.82%(18/101)。结论:贵阳地区染色体疾病儿童的染色体异常核型以常染色体为主。Objective： To explore the feature of abnormal karyotype for children with chromosome disease in Guiyang. Methods： Totally 270 children with mental retardation,developmental disorders,birth defects and abnormal karyotype were studied by analyzing the peripheral blood chromosome karyotype in a major hospital of Guiyang City. Results： There were 101 cases of abnormal karyotype of chromosome and the abnormal rate was 37. 41%（ 101 /270）. Among the 101 cases of chromosomes aberrance,there were 83 cases of abnormal euchromosome karyotype（ accounting for 30. 74% in total cases and 82. 18% in abnormal cases） while there were 18 cases of abnormal sex chromosome karyotype（ accounting for 6. 67% in total cases and 17. 82% in abnormal cases）. Conclusion： The abnormal euchromosome karyotypes predonminate in child chromosome disease in Guiyang.

关 键 词：儿童行为障碍 细胞遗传学分析 染色体核型 遗传咨询 染色体异常 

分 类 号：R714.21[医药卫生—妇产科学] R749.94[医药卫生—临床医学]