title: A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion.
abstract: The phenotype of 15q13.3 microdeletion is variable and can be non-penetrant. Recently, "second-hit hypothesis" has been proposed as a possible explanation for some variability in recurrent microdeletion syndromes. We present a family with a 1.9 Mb 15q13.3 deletion and a novel 800 kb 16q22.1 duplication. We show that the 16q22.1 duplication may be a phenotypic modifier in this family and likely results in epilepsy and learning difficulties. We state the possible genes in this region that may be important in neurological development and function.
authors.affiliation: Genetic Medicine, St. Mary's Hospital, Manchester Academic Health Sciences Centre, University of Manchester, UK. siddharth.banka@manchester.ac.uk
authors.forename: Siddharth
authors.initials: S
authors.lastname: Banka
authors.forename: Gregory J
authors.initials: GJ
authors.lastname: Fitzgibbon
authors.forename: Lorraine
authors.initials: L
authors.lastname: Gaunt
authors.forename: Wendy J
authors.initials: WJ
authors.lastname: Rankin
authors.forename: Jill
authors.initials: J
authors.lastname: Clayton-Smith
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D058674:Chromosome Duplication; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007859:Learning Disabilities / Q000235:genetics* / Q000473:pathology; D008297:Male; D010375:Pedigree; D010641:Phenotype