| 原发性闭经患者的异常核型与表型关系的探讨及1例新核型的发现 |
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| 引用本文： | 李永全 黄诗眷. 原发性闭经患者的异常核型与表型关系的探讨及1例新核型的发现[J]. 湛江医学院学报, 1992, 10(4): 213-216 |
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| 作者姓名： | 李永全 黄诗眷 |
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| 作者单位： | 湛江医学院生物学教研室(李永全，陈犇，潘超仁，周汝滨，廖霞)，湛江医学院附属医院妇产科(黄诗眷，王淑贤)，湛江医学院儿科教研室(梁晏青)，湛江医学院生物学教研室(陈小萍) |
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| 摘 要： | 对63例原发闭经患者行临床检查和细胞遗传学分析,发现异常核型26例。计有7种异常核型:45,X;45,X/46,XX;45,X/46,X,i(Xq);47,XXX;46,XY;46,X,-X,-21,+der(X)(pter→cen→q24),+t(Xqter→Xq24::21 P11→cen→21qter)和46,X,t(X;3)(Xpter→Xq26::3P23→3Pter;3qter→3P23::Xq26→Xqter)。后一种核型为世界首例报道。对异常核型的成因及异常核型与表型之间的关系进行了讨论。
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| 关 键 词： | 细胞遗传学 闭经 染色体组型 |
DISCUSSION ON THE RELATIONSHIP BETWEEN ABNORMAL KARYOTYPES AND PHENOTYPES IN PATIENTS WITH PRIMARY AMENORRHEA AND THE DISCOVERY OF A NEW KARYOTYPE |
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| Li Yongquan Chen Ben Huang Shijuan Liang Yanqiang Pan Chaoren Zhou Rubin Wang Suxiang Liao Xia Chen Xiaoping. DISCUSSION ON THE RELATIONSHIP BETWEEN ABNORMAL KARYOTYPES AND PHENOTYPES IN PATIENTS WITH PRIMARY AMENORRHEA AND THE DISCOVERY OF A NEW KARYOTYPE[J]. Journal of Guangdong Medical College, 1992, 10(4): 213-216 |
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| Authors: | Li Yongquan Chen Ben Huang Shijuan Liang Yanqiang Pan Chaoren Zhou Rubin Wang Suxiang Liao Xia Chen Xiaoping |
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| Affiliation: | Li Yongquan1 Chen Ben1 Huang Shijuan2 Liang Yanqiang3 Pan Chaoren1 Zhou Rubin1 Wang Suxiang2 Liao Xia1 Chen Xiaoping11. Department of Biolgy,Zhanjiang Medical College2. Department of Obstetrics and Gynecology,The Affiliated Hospital of Zhanjiang Medical College3. Department of Pediatrics,The Affiliated Hospitol of Zhanjiang Medical College |
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| Abstract: | |
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| Keywords: | primary amenorrhea cytogenetices karyotype chromosome abnormality |
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