| 1例身材矮小患者的分子细胞遗传学分析 |
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| 引用本文： | 偶健,王玮,段程颖,付文宇,李红,黄新力. 1例身材矮小患者的分子细胞遗传学分析[J]. 苏州大学学报(自然科学版), 2010, 30(6): 1239-1241,F0004 |
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| 作者姓名： | 偶健 王玮 段程颖 付文宇 李红 黄新力 |
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| 作者单位： | 偶健,王玮,段程颖,付文宇,李红,OU Jian,WANG Wei,DUAN Chen-ying,FU Wen-yu,LI Hong(苏州市立医院,生殖与遗传中心,江苏苏州,215002);黄新力,HUANG Xin-li(波士顿大学医学部,人类遗传中心,美国波士顿,MA02131) |
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| 摘 要： | 目的明确1例身材矮小患者的分子细胞遗传学特征。方法采用G带核型分析、Q带核型分析、荧光原位杂交（FISH）和比较基因组杂交（CGH）技术对患者染色体异常进行逐步细化分析。结果此患者最终诊断核型为46,X,der（X）。ish psu dic X t（X;Y）（p11.3;p11.1）（DXZ1＋,DYZ3＋,DYZ1＋,SRY-,PCPXYp-,PCPXYq＋＋）。ish cgh del（X）（p11.3pter）,dup（Y）（p11.2）。结论结合应用染色体显带核型分析技术,FISH和CGH技术可以精确诊断患者的染色体异常。
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| 关 键 词： | 身材矮小 G带核型分析 Q带核型分析 荧光原位杂交 比较基因组杂交 |
Molecular and Cytogenetics Study on a Case with Short Stature |
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| OU Jian,WANG Wei,DUAN Chen-ying,FU Wen-yu,LI Hong,HUANG Xin-li. Molecular and Cytogenetics Study on a Case with Short Stature[J]. Suzhou University Journal of Medical Science, 2010, 30(6): 1239-1241,F0004 |
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| Authors: | OU Jian WANG Wei DUAN Chen-ying FU Wen-yu LI Hong HUANG Xin-li |
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| Affiliation: | 1.Center of Reproduction and Genetics,Suzhou Municipal Hospital,Jiangsu Suzhou 215002,China; 2.Center for Human Genetics,Boston University School of Medicine,Boston,USA MA02131) |
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| Abstract: | Objective In order to ensure the characteristics of molecular and cytogenetics of the patient with short stature.Methods The chromosome structural aberration was analyzed by phase in G banding,Q banding,FISH and CGH techniques.Results The final diagnosed karyotype is 46,X,der（X）.ish psu dic X t（X;Y）（p11.3;p11.1）（DXZ1＋,DYZ3＋,DYZ1＋,SRY-,PCPXYp-,PCPXYq＋ ＋）.ish cgh del（X）（p11.3pter）,dup（Y）（p11.2）.Conclusion Karyotype banding,FISH and CGH techniques can particularly analyse chromosome structural aberration and provide necessary medical data for clinic diagnoses and therapy. |
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| Keywords: | short stature G banding Q banding fluorescence in situ hybridization comparative genomic hybridization |
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