Article
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
American journal of medical genetics. Part A - 1 Jan 2016
El Chehadeh Salima, Faivre Laurence, Mosca-Boidron Anne-Laure, Malan Valérie, Amiel Jeanne, Nizon Mathilde, Touraine Renaud, Prieur Fabienne, Pasquier Laurent, Callier Patrick, Lefebvre Mathilde, Marle Nathalie, Dubourg Christèle, Julia Sophie, Sarret Catherine, Francannet Christine, Laffargue Fanny, Boespflug-Tanguy Odile, David Albert, Isidor Bertrand, Le Caignec Cédric, Vigneron Jacqueline, Leheup Bruno, Lambert Laetitia, Philippe Christophe, Cuisset Jean-Marie, Andrieux Joris, Plessis Ghislaine, Toutain Annick, Goldenberg Alice, Cormier-Daire Valérie, Rio Marlène, Bonnefont Jean-Paul, Thevenon Julien, Echenne Bernard, Journel Hubert, Afenjar Alexandra, Burglen Lydie, Bienvenu Thierry, Addor Marie-Claude, Lebon Sébastien, Martinet Danièle, Baumann Clarisse, Perrin Laurence, Drunat Séverine, Jouk Pierre-Simon, Devillard Françoise, Coutton Charles, Lacombe Didier, Delrue Marie-Ange, Philip Nicole, Moncla Anne, Badens Catherine, Perreton Nathalie, Masurel Alice, Thauvin-Robinet Christel, Des Portes Vincent, Guibaud Laurent
Abstract excerpt
Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability, stereotyped movements, and recurrent pulmonary infections. We report on standardized brain magnetic resonance imaging (MRI) data of 30 affected patients carrying an Xq28 duplication involving MECP2 of various sizes (228 kb to...
Read the complete abstract on PubMed