title: A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.
abstract: We report on a 11-year-old boy investigated for a clinical suspicion of Angelman syndrome (AS) (OMIM 105830) who was found to carry a de novo interstitial deletion of chromosome 15q13.2q13.3. The deletion overlaps the critical region for the newly recognized recurrent 15q13.3 deletion syndrome. This is the first report of a patient with 15q13.3 deletion syndrome with clinical features similar to that of AS, thus broadening the phenotypic spectrum associated with the 15q13.3 microdeletion syndrome.
authors.affiliation: Institute of Medical Genetics, Faculty of Medicine, University of Oslo, Norway.
authors.forename: Tuva
authors.initials: T
authors.lastname: Barøy
authors.forename: Doriana
authors.initials: D
authors.lastname: Misceo
authors.forename: Oivind
authors.initials: O
authors.lastname: Braaten
authors.forename: Johan R
authors.initials: JR
authors.lastname: Helle
authors.forename: Madeleine
authors.initials: M
authors.lastname: Fannemel
authors.forename: Petter
authors.initials: P
authors.lastname: Strømme
authors.forename: Eirik
authors.initials: E
authors.lastname: Frengen
mesh_terms: D000328:Adult; D017204:Angelman Syndrome / Q000235:genetics* / Q000473:pathology; D002648:Child; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype