| X染色体异常的临床与遗传学分析 |
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| 引用本文： | 刘芳,史彩虹,王厚照,周友泉.X染色体异常的临床与遗传学分析[J].中国优生与遗传杂志,2011(11):54-55,128. |
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| 作者姓名： | 刘芳 史彩虹 王厚照 周友泉 |
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| 作者单位： | 解放军第174医院检验科遗传室; |
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| 摘 要： | 目的探讨X染色体异常的临床特征并分析其产生的可能原因。方法对5268例生殖异常患者通过取外周血淋巴细胞培养,显带进行染色体核型分析。结果检出X染色体异常79例,占被检患者的1.49%。其中X染色体数目异常64例,占异常核型81.0%。X染色体数目异常嵌合体7例,占异常核型8.9%。X染色体结构异常5例,占异常核型的6.3%。X染色体结构异常及嵌合体3例,占异常核型的3.8%。结论 X染色体异常可导致性发育异常或生殖异常等遗传效应,在遗传咨询中应引起足够的重视,对临床诊治工作有重要意义。
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| 关 键 词： | X染色体 异常 遗传学分析 |
X chromosome abnormalities and genetic analysis of clinical |
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| LIU Fang,SHI Cai-hong,WANG Hong-zhao,ZHOU You-quan..X chromosome abnormalities and genetic analysis of clinical[J].Chinese Journal of Birth Health & Heredity,2011(11):54-55,128. |
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| Authors: | LIU Fang SHI Cai-hong WANG Hong-zhao ZHOU You-quan |
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| Institution: | LIU Fang,SHI Cai-hong,WANG Hong-zhao,ZHOU You-quan.(Depatment of Genetics,Laboratory Medicine of No.174 Hospital of PLA,XiamenFujian 361003) |
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| Abstract: | Objective: To investigate the clinical features of X chromosome abnormalities and to analyze its possible causes.Methods: 5268 cases of reproductive abnormalities in patients with peripheral blood lymphocytes by culture,chromosome banding karyotype analysis.X chromosome abnormalities were detected in 79 cases,accounting for 1.49% of patients were seized.X chromosome abnormalities in which the number of 64 cases,accounting for 81.0% of abnormal karyotypes.Abnormal X chromosome mosaicism in 7 cases,accounting... |
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| Keywords: | X chromosome Abnormal Genetic analysis |
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