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40例Klinefelter综合征的临床遗传学研究

CLINICAL GENETICS STUDIES OF 40 PATIENTS WITH KLINEFELTER’S SYNDROME

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【作者】 善志红沈汝端张兰高桦

【Author】 Shan Zhi-hong,et al.Cytogenetics Lab.The first Affiliated hospital of Kunming Medical College(650032)

【机构】 昆明医学院第一附属医院细胞遗传室

【摘要】 本文综合报40例Klinefelter综合征,其中47,XXY,86例占90%,48,XY/47,XXY4例占10%,对其染色体异常的发生机制、临床特征进行分析,说明对此类病人应及早诊断和治疗。

【Abstract】 AbstractForty cases of Klinefelter’s syndrome had been collected from 1982 to1993 and founded in two categories of karyotypes by cytogenetics studies:36 cases were 47,XXY(90%);4 cases were 46, XY/47,XXY(10%).Theirclinical characteristics as well as the reasons of abnormal X chromosome.Theimportance of earlier diagnosis with proper treatments including androgenmedication was suggested because of their possible beneficial effects.

【关键词】 Klinefelter综合征遗传学
  • 【文献出处】 云南医药 ,MEDICINE AND PHARMACY OF YUNNAN , 编辑部邮箱 ,1994年03期
  • 【分类号】R697.220.3
  • 【下载频次】34
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