期刊文献+

湖州地区先天性畸形新生儿染色体异常核型分析 被引量:1

下载PDF
导出
摘要 目的通过对浙江省湖州地区先天性畸形新生儿的染色体异常核型分析,为产前诊断提供科学依据。方法对117例临床表现为先天畸形的新生儿进行外周血染色体核型分析。结果发现染色体异常核型73例,异常检出率为62.39%;其中常染色体异常核型70例,占异常数的95.89%,性染色体异常核型3例,占异常数的4.11%。结论染色体异常是引起新生儿先天性畸形、甚至死亡的重要病因之一。
出处 《现代实用医学》 2012年第4期433-435,共3页 Modern Practical Medicine
  • 相关文献

参考文献9

二级参考文献34

共引文献903

同被引文献12

  • 1朱燕英,朱碎永,戴关洁,陶志华.新生儿染色体异常与表型的关系[J].中华医学遗传学杂志,2007,24(3):364-364. 被引量:2
  • 2Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark[J]. Hum Genet, 1991, 87(1): 81-83.
  • 3Cerrillo HM, Yerena DVM, Gonzalez PM, et al. Genetic amniocentesis in high-risk populations. Experience in 3081 cases [J]. Ginecol Obstet Mex, 2009, 77(4): 173-182.
  • 4Marinescu RC, Mamunes P, Kline AD, et al. Variability in a family with an insertion involving 5p[J]. Am J Med Genet,1999, 86(3) : 258-263.
  • 5Wang JC, Khan A. Large distal 5p deletion with hemifacial microsomia and absence of cri-du-chat syndrome [J]. Clin Dysmorphol, 2010, 19 (1). 38-39. DOI. 10. 1097/MCD. 0b013e328331ddaS.
  • 6Kato Z, Morimoto W, Kimura T, et al. Interstitial deletion of 18q. comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2. q21.33)[J]. Birth Defects Res A Clin Mol Teratol, 2010, 88(2): 132-135. DOI: 10.1002/bdra. 20633.
  • 7Stoeva RE, Grozdanova LI, Vermeeseh JR, et al. Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations[J]. Folia Med (Plovdiv), 2008, 50 (4): 55-62.
  • 8Bernstein R, Wadee A, Rosendorff J, et al. Inverted Y chromosome polymorphism in the Gujerati Muslim Indian population of South Africa[J]. Hum Genet, 1986, 74(3) : 223- 229.
  • 9Hsu LY, Benn PA, Tannenbaum HL, et al. Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: a large prenatal study[J]. Am J Med Genet, 1987, 26(1): 95- 101.
  • 10Hermetz KE, Newman S, Conneely KN, et al. Large inverted duplications in the human genome form via a fold-back mechanism[J]. PLoS Genet, 2014, 10(1) e1004139. DOI: 10. 1371/journal. pgen. 1004139.

引证文献1

二级引证文献9

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部