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目的分析儿童克氏综合征的染色体核型及临床表现。方法回顾性分析12例克氏综合征患儿的临床表现及外周血染色体核型。结果 12例克氏综合征患儿染色体核型分为纯和型(47,XXY)8例,嵌和型(47,XXY/46,XY)2例和变异型2例。克氏综合征患儿早期多表现为泌尿生殖系统发育异常,缺乏特异性。结论克氏综合征患儿早期诊断困难,儿科医生需了解其临床表现和重视实验室筛查。
Objective To analyze the karyotype and clinical manifestations of Kirschner ’s syndrome in children. Methods Retrospective analysis of 12 cases of Kirschner ’s syndrome in children with clinical manifestations and peripheral blood karyotype. Results Chromosome karyotypes of 12 children with Klinefelter syndrome were divided into 8 cases of pure and type (47, XXY), 2 cases of mosaic (47, XXY / 46, XY) and 2 cases of variant. Kirschner ’s syndrome in children with early manifestations of genitourinary dysplasia, the lack of specificity. Conclusion Early diagnosis of children with Klinefelter syndrome is difficult, pediatricians need to understand their clinical manifestations and emphasis on laboratory screening.