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Updated: Nov 16, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
7q11.23 deletion and duplication
Lucy R Osborne1, Carolyn B Mervis1
1Departments of Medicine and Molecular Genetics, University of Toronto, 661 University Avenue, Suite 1500, MaRS Centre, West Tower, Toronto, ON M5G 1M1 Canada; Department of Psychological and Brain Sciences, 317 Life Sciences Building, University of Louisville, Louisville, KY 40292, United States.
Abstract:
Copy number variation (CNV) at 7q11.23 causes distinct disorders with both contrasting and overlapping phenotypic features of some but not all of the genes encompassed by the CNV. The spectrum of cognitive disabilities, psychopathology and altered behaviours associated with 7q11.23 CNV provides a tantalizing window of opportunity to better understand the molecular bases for complex human cognitive function and social behaviour. Study of individuals with atypical CNVs has narrowed the field of candidate genes, and the generation of mouse models has allowed further insight into their functions. Recent research has used high-throughput genomics techniques to interrogate the transcriptome and methylome, and initial strategies to correct gene transcription levels, pathophysiology and cognitive and behavioural phenotypes show promise.
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