| 染色体非平衡易位的分子细胞遗传学研究 |
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| 引用本文： | 夏家辉,殷照初,戴和平,薛志刚,陈勇,潘乾,宁来忠. 染色体非平衡易位的分子细胞遗传学研究[J]. 中华医学遗传学杂志, 2000, 17(1): 10-12 |
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| 作者姓名： | 夏家辉 殷照初 戴和平 薛志刚 陈勇 潘乾 宁来忠 |
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| 作者单位： | 1. 410078,长沙,湖南医科大学医学遗传学国家重点实验室
2. 410078,长沙,湖南医科大学附属湘雅医院儿科 |
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| 基金项目： | 国家自然科学基金(39680020) |
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| 摘 要： | 目的 应用荧光原位杂交技术对１例染色体异常患者进行分析。方法 对经细胞遗传学提示的染色体结构异常的病例，选用１、１８号染色体控针池进行涂染。结果 证实患者由于染色体不平衡易位导致部分单体和部分三体。结论 １ｑ４２－ｑｔｅｒ、１８ｑ２２－ｑｔｅｒ可能与心脏的发育等胚过程有关。
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| 关 键 词： | 染色体结构异常 先天性心脏病 分子细胞遗传学 |
| 修稿时间： | 1999-02-25 |
Molecular cytogenetics study in a case with unbalanced chromosome translocation |
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| XIA Jiahui,YIN Zhaochu,DAI Heping,XUE Zhigang,CHEN Yong,PAN Qian,NING Laizhong. Molecular cytogenetics study in a case with unbalanced chromosome translocation[J]. Chinese journal of medical genetics, 2000, 17(1): 10-12 |
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| Authors: | XIA Jiahui YIN Zhaochu DAI Heping XUE Zhigang CHEN Yong PAN Qian NING Laizhong |
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| Affiliation: | National Laboratory of Medial Genetics, Hunan Medical University, Changsha, Hunan, 410078 P.R. China. nlmglcy@public.cs.hn.cn |
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| Abstract: | Objective To analyze the chromosome structural aberration in a case of unbalanced chromosome translocation by fluorescence in situ hybridization technique.Methods The 1,18 whole chromosome specific painting probes were used to confirm chromosome abnormality suggested by high resolution G banding examination.Results An unbalanced translocation t(1;18) (q42;q22) was detected in the patient, which caused partial trisomy of 1q42 qter and partial monosomy of 18q22 qter.Conclusion The identified translocation suggested a potential site for congenital heart disease. |
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| Keywords: | fluorescence in situ hybridization chromosome structural aberration congenital heart disease |
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