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胎儿标记染色体与临床表型

Relationship between marker chromosomes and the fetal phenotype

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【作者】 谢英俊方群吴坚柱陈宝江陈健生陈争陈筠虹

【Author】 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.)

【机构】 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

【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。

【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.

【关键词】 标记染色体产前诊断胎儿
【Key words】 Marker chromosomePrenatal diagnosis
  • 【文献出处】 中国优生与遗传杂志 ,Chinese Journal of Birth Health & Heredity , 编辑部邮箱 ,2011年08期
  • 【分类号】R714.53
  • 【被引频次】2
  • 【下载频次】170
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