Application of single nucleotide polymorphism microarray technology in diagnosis of Rubinstein-Taybi syndrome:one case report
10.3969/j.issn.1000-3606.2016.09.013
- VernacularTitle: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
- Author:
Yan WANG
;
Xiaoyang HONG
;
Wei PENG
;
Xiaojuan ZHANG
;
Xiao YANG
;
Zhichun FENG
- Publication Type:Journal Article
- Keywords:
single nucleotide polymorphism array;
Rubinstein-Taybi syndrome;
molecular diagnosis
- From:
Journal of Clinical Pediatrics
2016;34(9):688-690
- CountryChina
- Language:Chinese
-
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 16 p 13 . 3 region (chr 16:2903942-4748851 ), 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.
