Dataset Information


Targetted Microarray Testing for Intellectual Disability Provides Diagnoses and Identifies Novel Candidate Genes

ABSTRACT: We designed a microarray to test at exonic resolution for genomic imbalance for genes representative of all known chromosomal microdeletion/microduplication syndromes, all known causative genes for ID, all known genes encoding glutamate receptors and their known encoding proteins and all known genes encoding proteins with epigenetic regulatory function. We found 36 de novo copy number variants affecting 35 children in this study. 167 trios, each comprising an affected child and both its normal parents were analyzed by conducting two comparative hybridizations; child vs. mother and child vs. father, and only selecting a CNV if it appeared in both hybridizations, i.e., was de novo. De novo CNVs were independantly validated using quantitative PCR.

ORGANISM(S): Homo sapiens  

SUBMITTER: Farah Zahir   Tracy Tucker  Farah R Zahir  Emmanuelle Lemyre  David Chai  Sylvia Dobrzeniecka  Allen Delaney  Jan M Friedman  Patrice Eydoux  Fadi F Hamdan  Jacques L Michaud  Sylvie Langlois  Malachi Griffith  Marco Marra  Erica Tsang 

PROVIDER: E-GEOD-39533 | ArrayExpress | 2012-07-23



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