论文部分内容阅读
目的通过综合分析Klinefelter综合征的细胞遗传学特征及临床特点,深入探讨Klinefelter综合征的产生机理、治疗及生育等问题。方法回顾性分析52例Klinefelter综合征患者的临床资料。染色体分析采用外周血淋巴细胞培养法,Giemsa染色,显微镜下计数30个分裂相,综合分析3-5个核型。结果 52例Klinefelter综合征患者中,47,XXY47例,占90.4%,嵌合型两例3.8%,47,XXY,inv(9)(p11;q13)一例,占1.9%,48,XXY,+21一例,占1.9%,49,XXXXY一例,占1.9%。结论细胞遗传学染色体核型分析是确诊Klinefelter综合征的主要手段,尽早诊断,及时合理的治疗对提高患者生活适应能力,改善精神状态,解决婚育问题有着重要的临床意义。
Objective To explore the mechanism of Klinefelter’s syndrome, treatment and fertility by comprehensively analyzing the cytogenetic and clinical features of Klinefelter’s syndrome. Methods The clinical data of 52 Klinefelter syndrome patients were retrospectively analyzed. Chromosome analysis using peripheral blood lymphocyte culture method, Giemsa staining, counting under the microscope 30 split phase, a comprehensive analysis of 3-5 karyotypes. Results Among the 52 patients with Klinefelter syndrome, 47 were 47 and XXY, accounting for 90.4%, and two cases were chimeric 3.8%, 47, XXY and inv (9) (p11; q13), accounting for 1.9%, 48 and XXY, 21 cases, accounting for 1.9%, 49, XXXXY an example, accounting for 1.9%. Conclusion Cytogenetics karyotype analysis is the main means to diagnose Klinefelter syndrome. Early diagnosis, timely and reasonable treatment have important clinical significance to improve patients’ ability to adapt to life, improve mental status and solve the problem of marriage and childbirth.