| 胎儿标记染色体与临床表型 |
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| 引用本文： | 谢英俊,方群,吴坚柱,陈宝江,陈健生,陈争,陈筠虹. 胎儿标记染色体与临床表型[J]. 中国优生与遗传杂志, 2011, 0(8): 42-43,F0003 |
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| 作者姓名： | 谢英俊 方群 吴坚柱 陈宝江 陈健生 陈争 陈筠虹 |
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| 作者单位： | 中山大学附属第一医院胎儿医学中心;中山大学中山医学院医学遗传学研究室; |
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| 摘 要： | 目的就产前诊断为标记染色体的胎儿,分析标记染色体与胎儿表型的关系。方法对5320例产前诊断的羊水,脐带血样本行G显带染色体核型分析。结果检出3例新发标记染色体,其中两例嵌合型,且胎儿均伴有不同程度的畸形。结论细胞遗传学对标记染色体进行检测,结合来源分析,以提供有效的产前诊断信息。
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| 关 键 词： | 标记染色体 产前诊断 胎儿 |
Relationship between marker chromosomes and the fetal phenotype |
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| XIE Ying-jun,,FANG Qun,WU Jian-zhu,CHEN Bao-jiang,CHEN Jian-sheng ,CHEN Zheng,CHEN Jun-hong.. Relationship between marker chromosomes and the fetal phenotype[J]. Chinese Journal of Birth Health & Heredity, 2011, 0(8): 42-43,F0003 |
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| Authors: | XIE Ying-jun FANG Qun WU Jian-zhu CHEN Bao-jiang CHEN Jian-sheng CHEN Zheng CHEN Jun-hong. |
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| Affiliation: | XIE Ying-jun1,2,FANG Qun1,WU Jian-zhu1,CHEN Bao-jiang1,CHEN Jian-sheng 1,CHEN Zheng2,CHEN Jun-hong1.(1.Fetal Medicine Center,Department of Obstetrics and Gynecology,First Affiliated Hospital of Sun Yat-Sen University,Guangzhou,510080,P.R.China,2.Department of Medical Genetics,Zhongshan School of Medicine,Sun Yat-sen University,Guangzhou 510080,P.R.China.) |
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| Abstract: | Objective:To analysis the relationship between marker chromosomes and the fetal phenotype on 3 samples from prenatal diagnoses.Methods:G-banding were perform on 5320 prenatal diagnosis from amniotic fluid and cord blood sample.Results:Three de novo cases of marker chromosome were checked out with fetal abnormalities.Two of which showed mosaic karyotypes.Conclusion:Cytogenetics characterize precisely marker chromosome,and supplies the effective prenatal diagnosis information. |
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| Keywords: | Marker chromosome Prenatal diagnosis |
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