title: Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes.
abstract: Three distinct neurodevelopmental disorders arise primarily from deletions or duplications that occur at the 15q11-q13 locus: Prader-Willi syndrome, Angelman syndrome, and 15q11-q13 duplication syndrome. Each of these disorders results from the loss of function or overexpression of at least 1 imprinted gene. This article discusses the clinical background, genetic cause, diagnostic strategy, and management of each of these 3 disorders.
authors.affiliation: Department of Pediatrics, Connecticut Children's Medical Center, University of Connecticut School of Medicine, 505 Farmington Avenue, Farmington, CT 06032, USA; Department of Neurology, Connecticut Children's Medical Center, University of Connecticut School of Medicine, 505 Farmington Avenue, Farmington, CT 06032, USA. Electronic address: Lkalsner@connecticutchildrens.org.
authors.forename: Louisa
authors.initials: L
authors.lastname: Kalsner
authors.affiliation: Department of Pediatrics, Connecticut Children's Medical Center, University of Connecticut School of Medicine, 505 Farmington Avenue, Farmington, CT 06032, USA; Departments of Genetics and Genome Sciences and Pediatrics, Connecticut Children's Medical Center, University of Connecticut Health Center, 400 Farmington Avenue, Farmington, CT 06030-6403, USA. Electronic address: chamberlain@uchc.edu.
authors.forename: Stormy J
authors.initials: SJ
authors.lastname: Chamberlain
mesh_terms: D017204:Angelman Syndrome / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D019175:DNA Methylation; D044127:Epigenesis, Genetic; D018628:Gene Dosage; D020440:Gene Duplication; D015870:Gene Expression; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D011218:Prader-Willi Syndrome / Q000235:genetics*
keywords: Angelman syndrome; Chromosome 15q11-q13 duplication; Copy number variation; DNA methylation; Genomic imprinting; Prader-Willi syndrome; SNRPN; UBE3A