【摘要】 目的探讨克氏综合征核型与临床特征。方法通过外周血淋巴细胞培养制备染色体,G显带染色体核型分析。结果在2450例受检对象中,检出克氏综合征患者46例(1.88%)。核型为47,XXY44例,占95.6%;嵌合型1例,占2.2%;49,XXXXY1例,占2.2%。睾丸小是克氏综合征最典型表现,成年已婚者常以不育为就诊原因。结论通过细胞遗传学染色体核型分析是确诊该疾病的主要手段。更多还原

【Abstract】 Objective:To investigate the karyotype and clinical characteristics of the Klinefelter syndrome.Methods:Chromosome preparations were made from peripheral blood by 24h or 48h short time culture.Karyotypes were analyzed by G-banding technique.Results:46 cases of the Klinefelter syndrome have been identified in 2450 tested individuals.Of them,44 cases are the karyotype of 47,XXY(95.6%),1 case is mosaic karyotype(2.2%),1 case is the karyotype of 49 XXXXY.Small testicle is the main clinical characteristics of the Klinefelter syndrome.Conclusion:The cytogenetic analysis is the main method for diagnosing the Klinefelter syndrome.更多还原