Microarray detection of the copy number variations in a patient with developmental delay
10.3969j.issn.1000-3606.2015.05.019
- VernacularTitle:微阵列分析技术检测脑发育迟缓患儿基因拷贝数变异
- Author:
Lina ZHU
;
Yan WANG
;
Jia CHEN
;
Xiao YANG
;
Wei PENG
;
Xiuwei MA
;
Zhichun FENG
- Publication Type:Journal Article
- Keywords:
developmental delay;
single nucleotide polymorphisms array;
copy number variants
- From:
Journal of Clinical Pediatrics
2015;33(5):473-476
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the copy number variants of a developmental delay patient by applying single nucleotide polymorphisms array technique and to analyze the relationship between the clinical manifestation and copy number variants.Methods Single nucleotide polymorphisms array was used to detect genomic copy number variants in a child with development delay and her phenotypic normal parents.Results The patient had a 7. 9-Mb deletion at 8p23.3-p23.1 and a 27.4-Mb duplication at 8p23.1-p11.23, which were conifrmed as pathogenic copy number variants after comparative analysis with database.Conclusions Single nucleotide polymorphisms array could serve as a useful method to diagnose developmental delay patients and analyze pathogenesis.
