| 400例遗传咨询者细胞遗传学分析 |
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| 引用本文： | 林敏,车敏,刘琼珊,黄以兰,郑云忠. 400例遗传咨询者细胞遗传学分析[J]. 海峡预防医学杂志, 2004, 10(4): 1-2 |
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| 作者姓名： | 林敏 车敏 刘琼珊 黄以兰 郑云忠 |
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| 作者单位： | 福建省计划生育科研所,福州,350011;福建省计划生育科研所,福州,350011;福建省计划生育科研所,福州,350011;福建省计划生育科研所,福州,350011;福建省计划生育科研所,福州,350011 |
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| 摘 要： | [目的]探讨反复自然流产、不育症、智力低下等症的遗传学原因。[方法]对400例遗传咨询者进行外周血淋巴细胞遗传学检查。[结果]发现38例染色体异常核型(9．5％)，不良孕产史者检出率6．3％(18／284)，不育、不孕症18．5％(15／81)，智力低下者4／10；不良孕产史以平衡易位、倒位为主，不育以性染色体异常、大Y为主，智力低下均为21三体。[结论]无论是染色体数目异常还是染色体结构异常，都可导致先天畸形、智力低下、流产、不孕和生长发育障碍等。
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| 关 键 词： | 遗传咨询 外周血 细胞遗传 染色体 临床表现 异常核型 |
| 文章编号： | 1007-2705(2004)04-0001-02 |
| 修稿时间： | 2003-12-22 |
Cytogenetic Analysis on 400 Genetic Counseling Patients |
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| LIN Min,CHE Min,LIU Qiong-Shan,HUANG Yi-Lan,ZHENG Yun-Zhong. Cytogenetic Analysis on 400 Genetic Counseling Patients[J]. Strait Journal of Preventive Medicine, 2004, 10(4): 1-2 |
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| Authors: | LIN Min CHE Min LIU Qiong-Shan HUANG Yi-Lan ZHENG Yun-Zhong |
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| Abstract: | Objective To study the cytogenetics factors for recurrent spontaneous abortion,infertility and hypophrenia. Peripheral lymphocytes were detected by cytogenetics method for 400 genetic counseling patients. Abnormal chromosome was found in 38 patients (9.5%). The rate of abnormal gestation and birth was 6.3% (18/284),infertility was 18.5% (15/81) and metal retardation was 4/10. The main factor: Abnormal gestation was balanced translocation or invertion;Infertility was abnormal sex chromosome or big Y;And hypophrenia was Downs. [Conclusions ] The abnormal chromosome number or structure will result in congenital malformation,hypophrenia,abortion,infertility and growth obstruct. |
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| Keywords: | Genetic Counseling Peripheral Blood Cytogenetics Chromosome Clinical Manifestation Abnormal Chromosome |
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