期刊
GENE
卷 536, 期 1, 页码 145-150出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.gene.2013.11.029
关键词
Intellectual disability; Array comparative genomic hybridization (array CGH); Copy number variation (CNV)
资金
- European Community's Seventh Framework Programme, CHERISH [223692]
- Federal Program of the Ministry of Education and Science of Russian Federation [8727]
The use of array comparative genomic hybridization (array CGH) as a diagnostic tool in molecular genetics has facilitated the identification of many new microdeletion/microduplication syndromes (MMSs). Furthermore, this method has allowed for the identification of copy number variations (CNVs) whose pathogenic role has yet to be uncovered. Here, we report on our application of array CGH for the identification of pathogenic CNVs in 79 Russian children with intellectual disability (ID). Twenty-six pathogenic or likely pathogenic changes in copy number were detected in 22 patients (28%): 8 CNVs corresponded to known MMSs, and 17 were not associated with previously described syndromes. In this report, we describe our findings and comment on genes potentially associated with ID that are located within the CNV regions. (C) 2013 Elsevier B.V. All rights reserved.
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