title: Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features.
abstract: A novel 19.98-Mb duplication in chromosome Xp22.33p22.12 was detected by array CGH in a 30-year-old man affected by intellectual disability, congenital hypotonia and dysmorphic features. The duplication encompasses more than 100 known genes. Many of these genes (such as neuroligin 4, cyclin-dependent kinase like 5, and others) have already correlated with X-linked intellectual disability and/or neurodevelopmental disorders. Due to the high number of potentially pathogenic genes involved in the reported duplication, we cannot correlate the clinical phenotype to a single gene. Indeed, we suggest that the resulting clinical phenotype may have arisen from the overexpression and consequent perturbation of fine gene dosage.
authors.affiliation: Unit of Child and Adolescent NeuroPsychiatry, University Campus Bio-Medico, Rome, Italy; Laboratory of Molecular Psychiatry and Neurogenetics, Department of Medicine, University Campus Bio-Medico, Rome, Italy.
authors.forename: Carla
authors.initials: C
authors.lastname: Lintas
authors.affiliation: Mafalda Luce Center for Pervasive Developmental Disorders, Milan, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Picinelli
authors.affiliation: Mafalda Luce Center for Pervasive Developmental Disorders, Milan, Italy.
authors.forename: Ignazio S
authors.initials: IS
authors.lastname: Piras
authors.affiliation: Unit of Child and Adolescent NeuroPsychiatry, University Campus Bio-Medico, Rome, Italy; Laboratory of Molecular Psychiatry and Neurogenetics, Department of Medicine, University Campus Bio-Medico, Rome, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Sacco
authors.affiliation: Laboratory of Molecular Psychiatry and Neurogenetics, Department of Medicine, University Campus Bio-Medico, Rome, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Gabriele
authors.affiliation: Unit of Child and Adolescent NeuroPsychiatry, University Campus Bio-Medico, Rome, Italy.
authors.forename: Magda
authors.initials: M
authors.lastname: Verdecchia
authors.affiliation: Unit of Child and Adolescent NeuroPsychiatry, University Campus Bio-Medico, Rome, Italy; Laboratory of Molecular Psychiatry and Neurogenetics, Department of Medicine, University Campus Bio-Medico, Rome, Italy; Mafalda Luce Center for Pervasive Developmental Disorders, Milan, Italy.
authors.forename: Antonio M
authors.initials: AM
authors.lastname: Persico
keywords: Duplication Xp22.33p22.12; Dysmorphic facial features; Intellectual disability