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应用微阵列比较基因组杂交技术产前诊断DiGeorge综合征一例 被引量：5

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摘要 胎儿 孕25^＋周,B超提示宫内生长发育受限,心脏室间隔缺损（图1）,主动脉转位,合并羊水过多.父母非近亲结婚,孕期无不良因素接触史,无家族病史.
作者 廖灿 符芳 杨昕 张亮 蔡斌
机构地区 广州市妇女儿童医疗中心 生物芯片北京国家工程研究中心
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2011年第2期238-238,共1页 Chinese Journal of Medical Genetics
基金 十一五国家科技支撑计划支撑项目（2006BAI05A05） 广州市医药卫生科技重点项目（2006-Zdi-19） 广州市医药卫生科技项目（2008-YB-090）
关键词 DIGEORGE综合征 比较基因组杂交技术 产前诊断 微阵列 应用 宫内生长发育 室间隔缺损 动脉转位
分类号 R714.5 [医药卫生—妇产科学]
  • 相关文献

参考文献8

  • 1符芳,廖灿,潘敏,易翠兴,刘晗,袁思敏,胡顺妍,钟惠珠,李东至.应用微阵列比较基因组杂交技术精确诊断不平衡染色体畸变[J].中华医学遗传学杂志,2010,27(1):47-51. 被引量：6
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二级参考文献14

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共引文献5

同被引文献38

  • 1林胜谋,方群.22q11.2微缺失综合征研究现况[J].国外医学（遗传学分册）,2004,27(6):371-374. 被引量：7
  • 2姚春,陈泽锦,杨汉中,叶卫东.新生儿血γ-干扰素水平和自然杀伤细胞活性测定的临床意义[J].中国实用儿科杂志,1995,10(4):224-224. 被引量：1
  • 3许争峰,易龙,莫绪明,胡娅莉,王东进,朱瑞芳,江永中,吴星,武忠,沈立,张颖,仲晓玲.先天性心脏病患者22q11微缺失检测及相关分析[J].中华医学遗传学杂志,2006,23(3):250-255. 被引量：21
  • 4Maruyama S,Suda Mv Kobayashi T. A case of DiGeorge syndrome with left internal carotid artery absence probably causing one-and?a-half syndrome[]]. No To Hattatsu,2012,44(S) :392-396.
  • 5Garavelli Lv Rosato S, Wischmeijer Av et al. 22q11. 2 Distal Dele?tion Syndrome: Description of a New Case with Truncus Arterio?sus Type 2 and Review[] J. Mol Syndromo1,2011 ,2(1) :3S-44.
  • 6Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies[n AmJ Hum Genet,2010,86(S) :749-764.
  • 7OU Z,Berg IS,Yonath H,et al. Microduplications of 22g11. 2 are frequently inherited and are associated with variable phenotypes[J]. Genet Med,2008,10(4) :267-277.
  • 8Simon Tl , Wu Z. Avants B. et al. Atypical cortical connectivity and visuospatial cognitive impairments are related in children with chromosome 22g11. 2 deletion syndrome[J]. Behav Brain Funct , 2008.4(1) :25.
  • 9Rauch Av Pfeiffer RA,Leipold G.et al. A novel 22g11. 2 microde?letion in DiGeorge syndrome[J]. Am I Hum Genet.1999. 64(2): 659-666.
  • 10Rauch Av Zink Sv Zweier C.et al. Systematic assessment of atypi?cal deletions reveals genotype-phenotype correlation in 22q11. 2[J]. I Med Genet.2005.42(1) :871-876.

引证文献5

二级引证文献12

中华医学遗传学杂志
2011年 第2期

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