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目的：对734例男科病人作细胞遗传学检查，得出Klinefelter综合征的发病率，发现一些少见的体征及Klinefelter综合征不同类型染色体核型。方法：外周血淋巴细胞培养和镜下核型分析．常规的临床查体。结果：发现Klinefelter综合征81例，他们都有睾丸小、无精子、第二性征发育不良的Klinefelter综合征的“经典”体征，也发现个别病例伴有唇腭裂体征．激素水平与睾丸活检与文献资料相符。结论：男性不育症的细胞遗传学检查必不可少，细胞学确诊的Klinefelter综合征是临床结论性诊断依据，可免除病人为生育四处求医治疗和睾丸活检之苦。
OBJECTIVE: To examine the cytogenetics of 734 male patients and find out the incidence of Klinefelter syndrome, and find some rare signs and Karyfelter syndrome different types of chromosome karyotypes. Methods: Peripheral blood lymphocyte culture and microscopic karyotype analysis. Routine clinical examination. RESULTS: Eighty-one patients with Klinefelter syndrome were found, all of whom had “classical” signs of Klinefelter’s syndrome with small testicular, azoospermia, and secondary sexual characteristics. Some cases were also found to have cleft lip and palate signs. Hormone levels and testicular biopsy consistent with the literature. CONCLUSION: Cytogenetic examination of male infertility is essential. Cytologically diagnosed Klinefelter syndrome is the basis of clinically conclusive diagnosis and can save patients from seeking medical treatment and testicular biopsy for fertility.