| 五例罕见异常核型的细胞遗传学研究 |
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| 引用本文： | 杨真荣,肖燕忠,刘希贤.五例罕见异常核型的细胞遗传学研究[J].华中科技大学学报(医学版),1991(5). |
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| 作者姓名： | 杨真荣 肖燕忠 刘希贤 |
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| 作者单位： | 同济医科大学基础医学部医学遗传研究室
(杨真荣，肖燕忠)，同济医科大学基础医学部医学遗传研究室(刘希贤) |
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| 摘 要： | 本文从遗传咨询中对5例患者作染色体分析,其中4例曾有2次或2次以上反复自然流产史,结果发现染色体结构异常46,XX,t(1;11)(q42;q13)、46,XY,t(17;19)(q21;p13.3)、46,XY,t(4;5)(p13;q35)为世界首报;46,XX,t(16;18)(q24;q21)、46,XX,t(3;8)(p21;q24.3)核型是国内首次报道。本文对染色体畸变及反复自然_流产的来源和原因进行了讨论。
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| 关 键 词： | 染色体 核型 反复自然流产 遗传咨询 |
A Cytogenetic Study of Five Rare Karyotypes |
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| Yang Zhenrong,Xiao Yanzhong,Liu Xixian.A Cytogenetic Study of Five Rare Karyotypes[J].Journal of Huazhong University of Science and Technology(Health Sciences),1991(5). |
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| Authors: | Yang Zhenrong Xiao Yanzhong Liu Xixian |
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| Institution: | Yang Zhenrong,Xiao Yanzhong,Liu XixianDepartment of Medical Genetics,Faculty o/ Basic MedicalSciences,Tongji Medical University,Wuhan |
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| Abstract: | The results of chromosome analysis of 5 cases from our genetic counseling showed that among these patients, 4 had had two or more repeated spontaneous abortions. Structural abnormalities with the karyotypes 46, XX, t(1;11)(q42;ql3), 46,XY, t(l7;19)(q21;P13.3), 46,XY, t(4;5) (p13;q35) were reported for the first time in the literature abroad. The karyotypes 46, XX, t(16;18)(q24;q2l), 46, XX, t(3;8)(p21;q24.3) were reported for the first time in the literature at home. A discussion is made on the origin of chromosome aberration and the cause of repeated spontaneous abortions. |
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| Keywords: | chromosome aberration karyotype repeated spontaneous abortion genetic counseling |
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