title: Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication.
abstract: The 4 Mb 15q11-q13 region is prone to structural rearrangements. Deletions have been identified among the leading causes for genetic diseases such as the Prader-Willi and Angelman syndromes, while duplications, occurring preferentially on the maternal chromosome, produce a typical phenotype that includes mental retardation, language delay, seizures and autism. Although a number of such patients have been reported, however, there is a paucity of information about their clinical outcomes in adult age. We report on a 33-year-old female with a microduplication of 15q11-q13 detected by array-CGH analysis, with particular reference to the epilepsy phenotype, characterized as a late-onset Lennox-Gastaut syndrome.
authors.affiliation: Molecular Medicine, Azienda Ospedaliera Universitaria Senese, Siena, Italy. a.orrico@ao-siena.toscana.it
authors.forename: Alfredo
authors.initials: A
authors.lastname: Orrico
authors.forename: Marcella
authors.initials: M
authors.lastname: Zollino
authors.forename: Lucia
authors.initials: L
authors.lastname: Galli
authors.forename: Sabrina
authors.initials: S
authors.lastname: Buoni
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Marangi
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Sorrentino
mesh_terms: D000328:Adult; D017668:Age of Onset; D001321:Autistic Disorder / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007805:Language Development Disorders / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D012640:Seizures / Q000235:genetics*; D013577:Syndrome