| 荧光原位杂交联合微阵列比较基因组杂交分析一例原发性闭经患者的染色体畸变 |
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| 引用本文： | 李素丽,罗福薇,曹敏,黄美兴,王丽,耿茜,陈武斌,谢建生. 荧光原位杂交联合微阵列比较基因组杂交分析一例原发性闭经患者的染色体畸变[J]. 中国优生与遗传杂志, 2014, 0(6): 15-16 |
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| 作者姓名： | 李素丽 罗福薇 曹敏 黄美兴 王丽 耿茜 陈武斌 谢建生 |
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| 作者单位： | 深圳市妇幼保健院,广东深圳518048 |
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| 摘 要： | 目的分析1例原发性闭经患者的染色体畸变,探讨该患者原发性闭经的可能原因。方法采集临床已确诊的原发性闭经患者外周血,并抽提基因组DNA,进行荧光原位杂交和微阵列比较基因组杂交,分析染色体异常。结果微阵列比较基因组杂交显示患者染色体Xp22.31区域存在长1.637Mb片段的三倍体,Xp21.2-q21.1区域存在长52.156 Mb片段的重复片段。结论微阵列比较基因组杂交技术可以检测染色体微小畸变,值得临床推广应用。
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| 关 键 词： | 原发性闭经 染色体畸变 微阵列比较基因组杂交 荧光原位杂交 |
Analysis of chromosome aberration in a patient with primary amenorrhea with fluorescence in situ hybridization and array comparative genomic hybridization |
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| LI Su-li,LUO Fu-wei,CAO Min,HUANG Mei-xin,WANG Li,GENG Qian,CHEN Wu-bin,XIE Jian-sheng. Analysis of chromosome aberration in a patient with primary amenorrhea with fluorescence in situ hybridization and array comparative genomic hybridization[J]. Chinese Journal of Birth Health & Heredity, 2014, 0(6): 15-16 |
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| Authors: | LI Su-li LUO Fu-wei CAO Min HUANG Mei-xin WANG Li GENG Qian CHEN Wu-bin XIE Jian-sheng |
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| Affiliation: | . (Central Laboratory, Shenzhen Maternity and Child Healthcare Hospital, 518048) |
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| Abstract: | Objective： To analyze the Chromosome aberration in a patient with primary amenorrhea, and to explore the causes for primary amenorrhea. Methods： Genomic DNA was extracted from peripheral leukocytes of the patient. Chromosome aberration was analyzed by fluorescence in situ hybridization and array comparative genomic hybridization. Results： It was detected that there were a 1.637 Mb triplication at Xp22.31 and a 52.156 Mb duplication of Xp21.2-q21.1 in chromosome X. Conclusion： Array comparative genomic hybridization could be used widely to detect chromosome micro-aberration. |
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| Keywords: | Primary amenorrhea Chromosome aberration Array comparative genomic hybddization Fluorescence in situ hybridization |
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