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array-CGH对胎儿11号染色体畸变的遗传学分析1例 被引量:1

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摘要 临床资料患者某孕妇,30岁,孕4产1,足月剖宫产一男孩,体健,现孕23+3周,因胎儿颈部水囊瘤要求产前诊断。
出处 《中国生育健康杂志》 2016年第4期386-386,F0004,共2页 Chinese Journal of Reproductive Health
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参考文献4

  • 1Vissers LE, Veltman JA, van kessel AG, et al. Identification of disease genes by whole genome CGH arrays. Hum Mol Genet,2005,14:R215- 11223, PMID: 16244320.
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  • 3Le Caignec C, Boceno M, Saugier-Veber P, et al. Detection of genomic imbalances by array based comparative genomic hybridization in fetuses wish multiple malformations. J Med Genet,2005 ,42 :121-128.
  • 4高健,郭文潮,梅冰,马丽爽.微阵列比较基因组杂交产前诊断胎儿7q36.3微缺失的临床研究[J].中国妇幼保健,2013,28(22):3613-3615. 被引量:3

二级参考文献5

  • 1Le Caignec C, Boceno M, Saugier - Veber P, et al. Detection of genomic imbalances by array based comparative genomic hy- bridization in fetuses with multiple malformations [ J] . J Med Genet, 2005, 42 (2): 121.
  • 2Rifai L, Port - Lis M, Tabet AC, et al. Ectodermal dysplasia - like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del (2q32) syndrome [J] . Am J Med Genet A, 2010, 152A (1): 111.
  • 3Kleeman L, Bianchi DW, Shaffer LG, et al. Use of array comparative genomic hybridization for prenatal diagnosis of fe- tuses with sonographic anomalies and normal metaphase karyo- type [J] . Prenat Diagn, 2009, 29 (13) : 1213.
  • 4Francesco P, Maria - Edgarda B, Gioanni P, et al. Prenatal diagnosis of agenesis of corpus callosum: what is the neurode- velopmental outcome [ J ] . Pediatrics International, 2006, 48 (3): 298.
  • 5姜小力,邓学东,李晓兵.胎儿胼胝体发育不良的超声和磁共振对比观察[J].中国医学影像技术,2011,27(2):357-360. 被引量:30

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