期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

1例1q25.1-q31.3缺失智力低下患儿的分子细胞遗传学诊断 被引量：1

下载PDF
导出
摘要 目的检测1例不明原因智力低下(mental retardation,MR)患儿的基因组不平衡,寻找其致病原因。方法经常规G显带核型分析,发现患儿核型为46,XX,del(1)(q25-q31)后运用微阵列比较基因组杂交(array-based comparative genomic hy-bridyzation,array-CGH)技术对患儿进行全基因组高分辨率扫描,对缺失区域的位置和大小作精确分析。结果 array-CGH结果证实了患儿基因组存在一个病理性的拷贝数变异:del(1)(q25.1-q31.3)(172 832 580-193 394 460,～20.561Mb)。结论 del(1)(q25.1-q31.3)是此患儿真正的致病原因;array-CGH技术具有高分辨率、高准确性等优点,有利于基因组异常的检测和临床遗传咨询。
作者 王艳 胡平 季修庆 林颖 李璃 张菁菁 周小燕 成建 马定远 曹荔 许争峰
机构地区 南京医科大学附属南京市妇幼保健院产前诊断中心
出处 《临床检验杂志》 CAS CSCD 北大核心 2011年第3期237-238,共2页 Chinese Journal of Clinical Laboratory Science
基金 国家自然科学基金(30872782) 江苏省自然科学基金(BK2008077) 南京市科技局基金(200801094) 南京医科大学科技发展基金(09NJMUZ43)
关键词 智力低下 1q25.1-q31.3 1q缺失 拷贝数变异 微阵列比较基因组杂交技术
分类号 Q987.1 [生物学—遗传学]
  • 相关文献

参考文献5

  • 1Shevell M, Ashwal S, Donley D, et al. Practice parameter: evaluation of the child with global developmental delay : report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society[J]. Neurology, 2003, 60(3): 367-380.
  • 2Taysi K, Sekhon GS, Hillman RE. A new syndrome of proximal deletion of the long arm of chromosome 1 : 1 q21-23 leads to 1 q25 [ J ]. Am J Med Genet, 1982, 13(4) : 423-430.
  • 3陈晓丽,郭金,王珺,王立文,丁秀原,张霆,吴柏林.微阵列比较基因组杂交技术检测不明原因智力低下/发育迟缓患儿的基因组拷贝数变异[J].中国循证儿科杂志,2010,5(2):85-93. 被引量：16
  • 4Hoglund P, Jalkanen R, Marttinen E, et al. Interstitial 1q25. 3- q31.3 deletion in a boy with mild manifestations [ J ]. Am J Med Genet, 2003, 123A(3) : 290-295.
  • 5Koivisto M, Akerblom HK, Remes M, et al. Primary hypothyroidism, growth hormone deficiency, and congenital malformations in a child with the karyotype 46 ,XY,del( 1 ) (q25q32) [J]. Acta Paediatr Scand, 1976, 65(4) : 513-518.

二级参考文献38

  • 1Shevell M, Ashwal S, Donley D, et al. Practice parameter: evaluation of the child with global developmental delay : report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society. Neurology ,2003,60 ( 3 ) :367-380.
  • 2Shaffer LG, American College of Medical Genetics Professional Practice and Guidelines Committee. American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation. Genet Med ,2005,7 ( 9 ) :650-654.
  • 3Shaw-Smith C, Redon R, Rickman L, et al. Microarray based comparative genomic hybridization ( array-CGH ) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet ,2004,41 ( 4 ) :241-248.
  • 4Vissers LE, de Vries BB, Veltman JA. Genomic microarrays in mental retardation: from CNV to gene, from research to diagnosis. J Med Genet, 2010 in press.
  • 5Shen Y, Irons M, Miller DT, et al. Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Clin Chem, 2007,53 (12) :2051-2059.
  • 6Vissers LE, de Vries BB, Osoegawa K, et al. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet ,2003,73 ( 6 ) : 1261-1270.
  • 7de Vries BB, Pfundt R, Leisink M, et al. Diagnostic genome profiling in mental retardation. Am J Hum Genet ,2005,77 (4) : 606-616.
  • 8Schoumans J, Ruivenkamp C, Holmberg E, et al. Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet ,2005,42 ( 9 ) :699-705.
  • 9Menten B, Maas N, Thienpont B, et al. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet, 2006,43 ( 8 ) : 625 -633.
  • 10Rosenberg C, Knijnenburg J, Bakker E. et al. Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. J Med Genet, 2006,43 (2) :180-186.

共引文献15

同被引文献4

引证文献1

临床检验杂志
2011年 第3期

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