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Open Access
Peer-reviewed
Research Article
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
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Maria Clara Bonaglia ,
Contributed equally to this work with: Maria Clara Bonaglia, Roberto Giorda
* E-mail: clara.bonaglia@bp.lnf.it
Affiliation Cytogenetics Laboratory, Scientific Institute E. Medea, Bosisio Parini, Italy
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Roberto Giorda ,
Contributed equally to this work with: Maria Clara Bonaglia, Roberto Giorda
Affiliation Molecular Biology Laboratory, Scientific Institute E. Medea, Bosisio Parini, Italy
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Silvana Beri,
Affiliation Molecular Biology Laboratory, Scientific Institute E. Medea, Bosisio Parini, Italy
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Cristina De Agostini,
Affiliation Cytogenetics Laboratory, Scientific Institute E. Medea, Bosisio Parini, Italy
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Francesca Novara,
Affiliation Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy
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Marco Fichera,
Affiliation Laboratorio di Diagnosi Genetica, Istituto Scientifico Oasi Maria Santissima, Troina, Italy
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Lucia Grillo,
Affiliation Laboratorio di Diagnosi Genetica, Istituto Scientifico Oasi Maria Santissima, Troina, Italy
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Ornella Galesi,
Affiliation Laboratorio di Diagnosi Genetica, Istituto Scientifico Oasi Maria Santissima, Troina, Italy
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Annalisa Vetro,
Affiliation Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy
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Roberto Ciccone,
Affiliation Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy
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Maria Teresa Bonati ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Clinic of Medical genetics, IRCCS Auxologico Italiano, Milano, Italy
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Sabrina Giglio ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliations Medical Genetics Section, Department of Clinical Pathophysiology, University of Florence, Firenze, Italy, Medical Genetics Unit, Meyer Children's University Hospital, Firenze, Italy
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Renzo Guerrini ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Pediatric Neurology Unit, Children's Hospital A. Meyer, University of Florence, Firenze, Italy
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Sara Osimani ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Biologia Molecolare e Citogenetica, Diagnostica e Ricerca, Ospedale San Raffaele, Milano, Italy
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Susan Marelli ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Department of Child Neuropsychiatry and Neurorehabilitation 1, Scientific Institute E. Medea, Bosisio Parini, Italy
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Claudio Zucca ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Neurofisiologia Clinica, Scientific Institute E. Medea, Bosisio Parini, Italy
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Rita Grasso ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Department of Child Neuropsychiatry and Neurorehabilitation 1, Scientific Institute E. Medea, Bosisio Parini, Italy
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Renato Borgatti ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Department of Child Neuropsychiatry and Neurorehabilitation 1, Scientific Institute E. Medea, Bosisio Parini, Italy
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Elisa Mani ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Department of Child Psychopathology, Scientific Institute E. Medea, Bosisio Parini, Italy
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Cristina Motta ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Department of Child Psychopathology, Scientific Institute E. Medea, Bosisio Parini, Italy
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Massimo Molteni ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Department of Child Psychopathology, Scientific Institute E. Medea, Bosisio Parini, Italy
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Corrado Romano ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Unità Operativa di Pediatria e Genetica Medica, IRCCS Oasi Maria Santissima Troina, Italy
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Donatella Greco ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Unità Operativa di Pediatria e Genetica Medica, IRCCS Oasi Maria Santissima Troina, Italy
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Santina Reitano ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Unità Operativa di Pediatria e Genetica Medica, IRCCS Oasi Maria Santissima Troina, Italy
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Anna Baroncini ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Unità Operativa di Genetica Medica, Dipartimento Materno-Infantile AUSL Imola, Imola, Italy
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Elisabetta Lapi ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliations Medical Genetics Unit, Meyer Children's University Hospital, Firenze, Italy, Genetics and Molecular Medicine Unit, University of Florence, Firenze, Italy
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Antonella Cecconi ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Unità Operativa di Pediatria e Neonatologia, Ambulatorio di Genetica Clinica, Ospedale S. Maria Annunziata, Firenze, Italy
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Giulia Arrigo ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy
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Maria Grazia Patricelli ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Biologia Molecolare e Citogenetica, Diagnostica e Ricerca, Ospedale San Raffaele, Milano, Italy
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Chiara Pantaleoni ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Developmental Neurology Unit, Carlo Besta Foundation Neurological Institute, Milano, Italy
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Stefano D'Arrigo ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Developmental Neurology Unit, Carlo Besta Foundation Neurological Institute, Milano, Italy
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Daria Riva ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Developmental Neurology Unit, Carlo Besta Foundation Neurological Institute, Milano, Italy
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Francesca Sciacca ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Laboratorio di Patologia Clinica e Genetica Medica, Servizio di Citogenetica, Carlo Besta Foundation Neurological Institute, Milano, Italy
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Bernardo Dalla Bernardina ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Unità Operativa Complessa Neuropsichiatria Infantile, Azienda Ospedaliera Universitaria Integrata Policlinico G.B. Rossi, Verona, Italy
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Leonardo Zoccante ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Unità Operativa Complessa Neuropsichiatria Infantile, Azienda Ospedaliera Universitaria Integrata Policlinico G.B. Rossi, Verona, Italy
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Francesca Darra ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Unità Operativa Complessa Neuropsichiatria Infantile, Azienda Ospedaliera Universitaria Integrata Policlinico G.B. Rossi, Verona, Italy
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Cristiano Termine ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Child Neuropsychiatry Unit, Department of Experimental Medicine, University of Insubria, Varese, Italy
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Emanuela Maserati ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Biologia e Genetica, Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Università dell'lnsubria, Varese, Italy
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Stefania Bigoni ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Medical Genetic Section, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy
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Emanuela Priolo ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Unità Operativa Complessa Genetica Medica, Azienda Ospedaliera BBM, Reggio Calabria, Italy
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Armand Bottani ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Service de Médecine Génétique, Département de Médecine Génétique et de Laboratoire, Höpital Cantonal de Genève, Geneva, Switzerland
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Stefania Gimelli ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Service de Médecine Génétique, Département de Médecine Génétique et de Laboratoire, Höpital Cantonal de Genève, Geneva, Switzerland
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Frederique Bena ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Service de Médecine Génétique, Département de Médecine Génétique et de Laboratoire, Höpital Cantonal de Genève, Geneva, Switzerland
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Alfredo Brusco ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Department of Genetics, Biology and Biochemistry, University of Torino, Torino, Italy
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Eleonora di Gregorio ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Department of Genetics, Biology and Biochemistry, University of Torino, Torino, Italy
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Irene Bagnasco ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Struttura Complessa NPI Ospedale Martini, Torino, Italy
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Ursula Giussani ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Laboratorio di Genetica Medica, Ospedali Riuniti di Bergamo, Bergamo, Italy
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Lucio Nitsch ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Department of Cellular and Molecular Biology and Pathology, “Federico II” University, Napoli, Italy
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Pierluigi Politi ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Department of Health Sciences, University of Pavia, Pavia, Italy
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Maria Luisa Martinez-Frias ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliations Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain, Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Madrid, Spain
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Maria Luisa Martínez-Fernández ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliations Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain, Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
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Nieves Martínez Guardia ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Servicio de Neonatología, Hospital Severo Ochoa Leganes, Madrid, Spain
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Anna Bremer ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden
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Britt-Marie Anderlid ,
¶These authors contributed on behalf of the 22q13 Clinical Study Group.
Affiliation Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden
⨯ - [ ... ],
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Orsetta Zuffardi
Affiliations Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy, Fondazione IRCCS C. Mondino, Pavia, Italy
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Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
- Maria Clara Bonaglia,
- Roberto Giorda,
- Silvana Beri,
- Cristina De Agostini,
- Francesca Novara,
- Marco Fichera,
- Lucia Grillo,
- Ornella Galesi,
- Annalisa Vetro,
- Roberto Ciccone
- Published: July 14, 2011
- https://doi.org/10.1371/journal.pgen.1002173