| 遗传咨询730例的染色体分析 |
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| 引用本文： | 孙永玉,虎宝先,蒋晓薇. 遗传咨询730例的染色体分析[J]. 华中科技大学学报(医学版), 1989, 0(2) |
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| 作者姓名： | 孙永玉 虎宝先 蒋晓薇 |
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| 作者单位： | 同济医科大学附属协和医院妇产科遗传室(孙永玉，虎宝先)，同济医科大学附属协和医院妇产科遗传室(蒋晓薇) |
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| 摘 要： | 本文应用医学细胞遗传学技术,检测高危染色体病730例,发现染色体数目和结构异常63例,其中5例异常核型为世界首报,4例之后代行绒毛检查,发现与先证者相同的异常核型。63例中,由于配子或合子发生的畸变有48例,占76.2％;由上代亲本遗传的11例,占17.5%;4例起源尚不能确定,占6.3%。
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| 关 键 词： | 遗传咨询 染色体异常 绒毛膜检查 |
Chromosomal Analysis of 730 Cases on Genetic Consultation |
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| Sun Yongyu,Hu Baoxian,Jiang Xiaowei. Chromosomal Analysis of 730 Cases on Genetic Consultation[J]. Journal of Huazhong University of Science and Technology(Health Sciences), 1989, 0(2) |
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| Authors: | Sun Yongyu Hu Baoxian Jiang Xiaowei |
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| Affiliation: | Sun Yongyu,Hu Baoxian,Jiang XiaoweiDepartment of Gynecology and Obstetrics,Xiehe Hospital,Tongji Medical University,Wuhan |
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| Abstract: | 730 cases of high risk chromosomal diseases were studied using medical genetic techniques. 63 of them were found to have abnormalities of chromosome number and structure, including 5 types of aberrations hitherto not yet reported in the world literoture.Chorionic villus samples were obtained from 4 of the fetuses in early pregnancies and their chromosomal karyotypes were fcund to be the same as those of their parental propositi. In 48 (76.2%) of the 63 cases, chromosomal aberrations were found to develop from abnormal zygotes or gametes, while in 11 (17.5%),abnormalities were inherited from their previous generations. The arigin of chromosomal diseases in the other 4 oases (6.3%) remained unknown. |
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| Keywords: | genetic counseling chromosome abnormalities chorionic villi study |
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