46例克氏综合征核型与临床  

Study of the karyotype and clinics of 46 patients with Klinefelter syndrome

作　　者：程红革[1] 韦卉[1] 范柳青[1] 戴盛明[1] 李湧[1] 

机构地区：[1]广西医科大学第四附属医院检验科,柳州545005

出　　处：《中国优生与遗传杂志》2008年第9期55-55,85,共2页Chinese Journal of Birth Health & Heredity

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。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.

关 键 词：克氏综合征 细胞遗传学 染色体核型 临床特征 

分 类 号：R697.22[医药卫生—泌尿科学]