108例发育异常患儿染色体核型分析  

Analysis of chromosome karyotypes of 108 dysplastic patient

作　　者：田艳[1] 王厚照[1] 刘芳[1] 史彩虹[1] 

机构地区：[1]解放军第174医院检验科,厦门361003

出　　处：《中国优生与遗传杂志》2013年第8期64-65,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析发育异常与染色体异常的关系。方法检测厦门地区108例发育异常患儿(≤18岁)的外周血淋巴细胞核型。结果 108例发育异常患者中检出异常核型26例,占患者总数的24.1%:其中性染色体异常有9例占患者总数的8.3%,常染色体异常有17例占15.7%,另外还检出82例核型正常但发育不全者,占75.9%。结论染色体异常是导致发育异常的重要原因之一,对患者进行染色体检查为其寻找病因提供依据。Objective： To analyze the relationship between abnormal karyotypes and abnormal fertility.Methods： To research peripheral blood lymphocytes of 108 dysplastic patients who is younger than 18,and the abnormal karyotype were analyzed.Results： There were 26 cases of abnormal karyotypes in 108 patients with genetic counseling and the abnormal rate is 24.1%.In chromosomal abnormal karyotypes,there were 9 cases of sex chromosome abnormalities,accounting for 8.3%;and there were 17 cases of euchromosome abnormalities,accounting for 15.7%.And there were 82 cases of dysplasia who had normal chromosome karyotypes,accounting for 75.9%.Conclutions： Abnormal karyotype is closely related to dysplasia,karyotype analysis is conducive to clinical diagnosis,but also provide the basis for genetic counseling.

关 键 词：核型分析 发育异常 染色体 

分 类 号：R725.9[医药卫生—儿科]