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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 features of Klinefelter’s syndrome. Methods Chromosomes were prepared by peripheral blood lymphocyte culture and analyzed by G - banding karyotype. Results Among 2450 subjects, 46 patients (1.88%) with Klinefelter syndrome were detected. Karyotype 47, XXY44 cases, accounting for 95.6%; chimerism in 1 case, accounting for 2.2%; 49, XXXXY1 cases, accounting for 2.2%. Testicular small is the most typical manifestations of Klinefelter syndrome, adult married often infertility treatment for reasons. Conclusion The cytogenetic analysis of karyotypes is the primary means of diagnosing the disease.