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

doi:10.3969/j.issn.1000-3606.2016.09.013

2016 , Vol. 34 >Issue 9: 686

DOI: https://doi.org/10.3969/j.issn.1000-3606.2016.09.013

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

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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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WANG Yan , HONG Xiaoyang , FENG Zhichun , ZHANG Xiaojuan , YANG Xiao , PENG Wei . Application of single nucleotide polymorphism microarray technology in diagnosis of Rubinstein-Taybi syndrome: one case report[J]. Journal of Clinical Pediatrics, 2016 , 34(9) : 686 . DOI: 10.3969/j.issn.1000-3606.2016.09.013

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