综合报道

应用单核苷酸多态性微阵列技术诊断 Rubinstein-Taybi 综合征 1 例报告

  • 王艳 ,
  • 洪小杨 ,
  • 封志纯 ,
  • 张晓娟 ,
  • 杨晓 ,
  • 彭薇
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  • 北京军区总医院附属八一儿童医院(北京 100700)

收稿日期: 2016-09-15

  网络出版日期: 2016-09-15

Application of single nucleotide polymorphism microarray technology in diagnosis of Rubinstein-Taybi syndrome: one case report

  • WANG Yan ,
  • HONG Xiaoyang ,
  • FENG Zhichun ,
  • ZHANG Xiaojuan ,
  • YANG Xiao ,
  • PENG Wei
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  • Bayi Children’s Hospital, Beijing Military General Hospital, Beijing 100700, China

Received date: 2016-09-15

  Online published: 2016-09-15

摘要

目的 探讨Rubinstein-Taybi综合征的诊断策略。方法 对1例临床表现符合Rubinstein-Taybi综合征诊断的 患儿应用SNP-array技术进行全基因组拷贝数的变异分析。结果 患儿男, 2个月,发现16号染色体短臂13.3存在1.8 Mb 的缺失变异,位于chr16:2903942-4748851,该区段包含致病基因 CREBBP。结论 SNP-array等染色体微阵列分析(CMA) 技术可应用于Rubenstein-Taybi综合征的分子诊断。

本文引用格式

王艳 , 洪小杨 , 封志纯 , 张晓娟 , 杨晓 , 彭薇 . 应用单核苷酸多态性微阵列技术诊断 Rubinstein-Taybi 综合征 1 例报告[J]. 临床儿科杂志, 2016 , 34(9) : 686 . DOI: 10.3969/j.issn.1000-3606.2016.09.013

Abstract

Objective To explore the diagnosis strategy of Rubinstein-Taybi syndrome. Methods SNP-array technology was used to analyze the variation of whole genome copy number in one patient whose clinical features were in accord with the diagnosis of Rubinstein-Taybi syndrome. Results Two-months-old male patient had been detected to have 1.8 Mb deletion mutation in 16p13.3 region (chr16: 2903942-4748851), in which the pathogenic CREBBP gene was located. Conclusions Chromosomal microarray analysis (CMA) technology, such as SNP-array, can be used to make a molecular diagnosis of Rubinstein-Taybi syndrome.
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