| 荧光原位杂交技术在性反转诊断中的应用价值(附3例46,XY性反转女性病例报道) |
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| 引用本文： | 方宁,刘祖林,万卫红,祁莹,陈代雄.荧光原位杂交技术在性反转诊断中的应用价值(附3例46,XY性反转女性病例报道)[J].重庆医学,2010,39(3). |
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| 作者姓名： | 方宁 刘祖林 万卫红 祁莹 陈代雄 |
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| 作者单位： | 遵义医学院附属医院贵州省细胞工程重点实验室,563000;遵义医学院附属医院贵州省细胞工程重点实验室,563000;遵义医学院附属医院贵州省细胞工程重点实验室,563000;遵义医学院附属医院贵州省细胞工程重点实验室,563000;遵义医学院附属医院贵州省细胞工程重点实验室,563000 |
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| 基金项目： | 卫生部基金资助项目(WKJ2007-3-001) |
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| 摘 要： | 目的评价荧光原位杂交技术(FISH)在性反转诊断中的应用价值。方法用常规G显带方法分析3例生殖器发育障碍的社会性别为女性患者的外周血染色体核型,并采用FISH分析其X、Y染色体。结果FISH结果与G显带核型一致,3例患者均为46,XY女性性反转。结论FISH对于性反转颇具诊断价值,对中期分裂相有限及分散不佳的染色体标本均可作出明确诊断。
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| 关 键 词： | 性反转综合征 荧光原位杂交 46 XY女性 染色体畸变 |
Value of fluorescence in situ hybridization for sexual reverse syndrome |
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| FANG Ning,LIU Zu-lin,WAN Wei-hong,et al..Value of fluorescence in situ hybridization for sexual reverse syndrome[J].Chongqing Medical Journal,2010,39(3). |
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| Authors: | FANG Ning LIU Zu-lin WAN Wei-hong |
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| Institution: | Key Laboratory of Cell Engineering of Guizhou Province;Affiliated Hospital of Zunyi Medical College;Zunyi 563000;China |
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| Abstract: | Objective To evaluate the value of fluorescence in situ hybridization(FISH)for sexual reverse syndrome,and report three 46,XY sex reversal syndromes.Methods G-banding was used to detect the karyotypes in peripheral blood of three patients(social gender:female)with dysgenitalism,and their sex chromosomes were analyzed by FISH.Results The results of FISH were consistent with G-banding.Three patients were diagnosed as 46,XY sex reversed female.Conclusion FISH technique is very valuable in diagnosis of the sex ... |
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| Keywords: | sex reversal syndrome fluorescence in situ hybridization 46 XY female chromosome aberration |
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