title: The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy.
abstract: The most common of the heterogeneous group of the extra structurally abnormal chromosomes (ESACs) is the inv dup(15), whose presence results in tetrasomy 15p and partial tetrasomy 15q. Inv dup(15), containing the Prader-Willi/Angelman syndrome (PWS/AS) region, are constantly associated with phenotypic abnormalities and mental retardation. We report on four additional patients with inv dup(15), whose behavioral pattern, and neurologic and physical findings further delineate the phenotype of this neurogenetic syndrome. We also provide FISH analyses on chromosomes of the observed ESACs and discuss the role of a number of genes located within the tetrasomic region.
authors.affiliation: Stella Maris Scientific Research Institute, University of Pisa, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Battaglia
authors.forename: F
authors.initials: F
authors.lastname: Gurrieri
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: A
authors.initials: A
authors.lastname: Bellacosa
authors.forename: M G
authors.initials: MG
authors.lastname: Pomponi
authors.forename: M
authors.initials: M
authors.lastname: Paravatou-Petsotas
authors.forename: S
authors.initials: S
authors.lastname: Mazza
authors.forename: G
authors.initials: G
authors.lastname: Neri
mesh_terms: D000293:Adolescent; D000328:Adult; D000782:Aneuploidy; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002884:Chromosomes, Human, Pair 15; D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D001523:Mental Disorders / Q000235:genetics*; D013577:Syndrome