论文部分内容阅读
目的病例来自于2004年1月-2011年11月来我院就诊的68例Klinefelter综合征患者。对男性不育患者染色体核型及临床表现进行分析,通过分析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。方法检查采取常规外周血淋巴细胞培养,制片,G显带,每例计数30个核型,分析3-5个核型,异常者加倍计数、分析。最后使用染色体分析系统成像。结果 68例Klinefelter综合征中,典型Klinefelter综合征64例,占94.1%;伴有其它染色体异常3例,占4.4%;嵌合型1例,占1.5%,除嵌合体为少精外均有小睾、无精子症状。结论细胞遗传学染色体核型分析是确诊Klinefelter综合征的金标准,尽早诊断,及时的治疗对患者提高生活质量,解决婚育问题有着重要的临床意义。
The purpose of the case from the January 2004 - November 2011 to our hospital 68 cases of Klinefelter syndrome patients. To analyze the karyotypes and clinical manifestations of male infertility, and to analyze the pathogenesis, treatment and fertility of Klinefelter syndrome by analyzing the cytogenetic and clinical features of Klinefelter syndrome. Methods routine peripheral blood lymphocyte culture, production, G band, counting 30 karyotype each case, 3-5 karyotype analysis, abnormal double counting, analysis. Finally use the chromosome analysis system imaging. Results Among the 68 cases of Klinefelter syndrome, 64 cases were typical Klinefelter syndrome, accounting for 94.1%; 3 cases were associated with other chromosomal abnormalities, accounting for 4.4%; 1 case was chimerism, accounting for 1.5% Small testicles, no sperm symptoms. Conclusion Cytogenetics karyotype analysis is the gold standard for diagnosis of Klinefelter syndrome. Early diagnosis and prompt treatment have important clinical significance for patients to improve their quality of life and solve the problem of marriage and childbirth.