Article
Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.
Journal of medical genetics - 1 Apr 2007
Rajcan-Separovic E, Harvard C, Liu X, McGillivray B, Hall J G, Qiao Y, Hurlburt J, Hildebrand J, Mickelson E C R, Holden J J A, Lewis M E S
Abstract excerpt
BACKGROUND: During whole genome microarray-based comparative genomic hybridisation (array CGH) screening of subjects with idiopathic intellectual disability, we identified two unrelated individuals with a similar de novo interstitial microdeletion at 2p15-2p16.1. Both individuals share a similar clinical phenotype including moderate to severe intellectual disability, autism/autistic features, microcephaly,...
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