| 三例世界首报染色体异常核型分析 |
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| 引用本文： | 马红英,林美娜,王瑞瑜,张小萍. 三例世界首报染色体异常核型分析[J]. 中国优生与遗传杂志, 2005, 13(10): 60-61 |
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| 作者姓名： | 马红英 林美娜 王瑞瑜 张小萍 |
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| 作者单位： | 福建省漳州市医科所,363000 |
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| 基金项目： | 此病例经湖南医科大学夏家辉、戴和平老师鉴定特此致谢 |
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| 摘 要： | 目的对3例世界首报染色体异常核型进行研究探讨.方法采用外周血淋巴细胞72h培养,制备染色体.3例标本用G、C-显带法进行染色体核型分析.结果有两例染色体发生平衡易位.1例Y染色体臂内倒位.发现3种人类染色体异常核型,分别为46,XY,t(1;10)(q25;q24);46,XX,t(1;12)(q42;p13);45,X/46,X,inv(Y)(q11q12).经鉴定确定为世界首报核型.结论染色体异常是导致自然流产及性腺发育不全的重要原因.
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| 关 键 词： | 核型分析 染色体平衡易位 自然流产 |
| 文章编号： | 1006-9534（2005）10-0060-02 |
| 收稿时间： | 2005-04-18 |
| 修稿时间： | 2005-04-18 |
Analysis on three cases of world''''s first reported abnormal karyotype |
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| MA Hong-ying,LIN Mei-na,WANG Rui-yu,ZHANG Xiao-ping. Analysis on three cases of world''''s first reported abnormal karyotype[J]. Chinese Journal of Birth Health & Heredity, 2005, 13(10): 60-61 |
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| Authors: | MA Hong-ying LIN Mei-na WANG Rui-yu ZHANG Xiao-ping |
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| Affiliation: | Zhangzhou Institute of Medical Sciences, Zhangzhou 363000 China |
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| Abstract: | Objective:To study three cases of world first reported karyotype.Methods:Chromosome specimens were prepared by 72 hours culture of blood lymphocyte.Karuotypes of 3 cases were analyzed using G-banding and C-banding.Results:Three kinds of human abnormal karyotypes were checked out.Two cases were detected chromosomal translocation,and one case was detected Y chromoeomal inversion.The karyotypes which were identified firstly report in the world were 46,XY,t(1;10)(q25;q24),46,XX,t(1;12)(q42;p13)and 45,X/46,X,inv(Y)(q11;q12).Conclusion:Abnomal karyotype is an important cause of spontaneous abortion and gonad dysgensis. |
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| Keywords: | Karyotpying Chromosomal translocation Spontaneous abortion |
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