2756例外周血染色体核型分析及临床意义

Analysis and clinic meaning of chromosome karyotypes of 2756 genetic counseling

目的分析染色体异常核型与临床常见疾患的关系,为临床咨询及处理提供参考依据。方法对北京大学人民医院2000年1月至2010年6月2756例具有不同临床表现的遗传咨询者进行外周血染色体核型检查,总结其结果 ,并分析其临床表现与染色体异常的相关性及临床意义。结果 2756例染色体核型检查中发现异常核型181例,异常检出率为6.57%。其中21-三体综合征43例(1.56%),常染色体异常74例(2.69%),性染色体异常64例(2.32%)。结论染色体异常是造成智力低下、不良孕产史、原发闭经、男性不育等重要原因之一,临床上应重视对上述疾患者的染色体核型检查,从而为临床诊断和产前诊断提供依据。

Objective To analysis the relationship between abnormal karyotypes and chromosome and diseases,to offer basics for clinic genetic counseling.Methods 2 756 peripheral blood samples from outpatients with genetic counseling were tested for chromose karyotype.Results There were 181 cases of abnormal karyotypes with the rate of abnormal karyotypes of 6.57%,0f which,43 cases were Down＇s syndrome（1.56%）,74 cases were abnormal karyotypes of euchromosome（2.69%）,64 cases were abnormal karyotypes of sex chromosome（2.32%）.Conclusions The abnormal karyotype is the most common reason causing natural abortion,fetal death,congenital malformation,feeblemindedness,dead fetus,primary amenorrhea,infertility for man and obstacle of growth development.Chromose karyotype should be tested for these patients.