Ontology highlight
ABSTRACT:
SUBMITTER: Bonaglia MC
PROVIDER: S-EPMC3136441 | biostudies-other | 2011 Jul
REPOSITORIES: biostudies-other
Bonaglia Maria Clara MC Giorda Roberto R Beri Silvana S De Agostini Cristina C Novara Francesca F Fichera Marco M Grillo Lucia L Galesi Ornella O Vetro Annalisa A Ciccone Roberto R Bonati Maria Teresa MT Giglio Sabrina S Guerrini Renzo R Osimani Sara S Marelli Susan S Zucca Claudio C Grasso Rita R Borgatti Renato R Mani Elisa E Motta Cristina C Molteni Massimo M Romano Corrado C Greco Donatella D Reitano Santina S Baroncini Anna A Lapi Elisabetta E Cecconi Antonella A Arrigo Giulia G Patricelli Maria Grazia MG Pantaleoni Chiara C D'Arrigo Stefano S Riva Daria D Sciacca Francesca F Dalla Bernardina Bernardo B Zoccante Leonardo L Darra Francesca F Termine Cristiano C Maserati Emanuela E Bigoni Stefania S Priolo Emanuela E Bottani Armand A Gimelli Stefania S Bena Frederique F Brusco Alfredo A di Gregorio Eleonora E Bagnasco Irene I Giussani Ursula U Nitsch Lucio L Politi Pierluigi P Martinez-Frias Maria Luisa ML Martínez-Fernández Maria Luisa ML Martínez Guardia Nieves N Bremer Anna A Anderlid Britt-Marie BM Zuffardi Orsetta O
PLoS genetics 20110714 7
In this study, we used deletions at 22q13, which represent a substantial source of human pathology (Phelan/McDermid syndrome), as a model for investigating the molecular mechanisms of terminal deletions that are currently poorly understood. We characterized at the molecular level the genomic rearrangement in 44 unrelated patients with 22q13 monosomy resulting from simple terminal deletions (72%), ring chromosomes (14%), and unbalanced translocations (7%). We also discovered interstitial deletion ...[more]