title: Microdeletion syndromes.
abstract: The recent explosion in the implementation of genome-wide microarray technology to discover rare, pathogenic genomic rearrangements in a variety of diseases has led to the discovery of numerous microdeletion syndromes. It is now clear that these microdeletions are associated with extensive phenotypic heterogeneity and incomplete penetrance. A subset of recurrent microdeletions underpin diverse phenotypes, including intellectual disability, autism, epilepsy and neuropsychiatric disorders. Recent studies highlight a role for additional low frequency variants, or 'second hits' to account for this variability. The implementation of massively parallel sequencing and epigenetic models may provide a powerful prospective approach to the delineation of microdeletion syndrome phenotypes.
authors.affiliation: Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
authors.forename: Gemma L
authors.initials: GL
authors.lastname: Carvill
authors.forename: Heather C
authors.initials: HC
authors.lastname: Mefford
mesh_terms: D001321:Autistic Disorder / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D004827:Epilepsy / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D017353:Gene Deletion; D020440:Gene Duplication; D030342:Genetic Diseases, Inborn / Q000145:classification / Q000209:etiology; D018740:Genetic Heterogeneity; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide