title: Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review.
abstract: To date, 5 cases of 17p13.1 microduplications have been described in the literature. Intellectual disability was reported as the core feature, together with minor facial dysmorphisms and obesity, but a characteristic phenotype for 17p13.1 microduplication has not been delineated. Here, we describe a patient with a 1.56-Mb de novo duplication in 17p13.1, affected by mild intellectual disability, facial dysmorphisms, obesity, and diabetes. By comparing the different phenotypes of currently described cases, we delineated the main clinical features of 17p13.1 microduplication syndrome. All patients described to date had variable facial dysmorphisms; therefore, it was difficult to define a common facial gestalt. Furthermore, we stress endocrinological abnormalities as important features and the need to monitor these over time.
authors.affiliation: Clinical Genetics Unit, Università degli Studi di Parma, Parma, Italy; Scuola di Specializzazione in Neuropsichiatria Infantile, Università degli Studi di Parma, Parma, Italy.
authors.forename: Ilenia
authors.initials: I
authors.lastname: Maini
authors.affiliation: Clinical Genetics Unit, Università degli Studi di Parma, Parma, Italy; Department of Surgical, Medical, Dental and Morphological Sciences with interest in Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.
authors.forename: Ivan
authors.initials: I
authors.lastname: Ivanovski
authors.affiliation: Paediatric Neuropsychiatry Unit, Università degli Studi di Parma, Parma, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Iodice
authors.affiliation: Clinical Genetics Unit, Università degli Studi di Parma, Parma, Italy.
authors.forename: Simonetta
authors.initials: S
authors.lastname: Rosato
authors.affiliation: Clinical Genetics Unit, Università degli Studi di Parma, Parma, Italy.
authors.forename: Marzia
authors.initials: M
authors.lastname: Pollazzon
authors.affiliation: Clinical Genetics Unit, Università degli Studi di Parma, Parma, Italy.
authors.forename: Manuela
authors.initials: M
authors.lastname: Mussini
authors.affiliation: Department of Paediatrics, University of Turin, Turin, Italy.
authors.forename: Elga F
authors.initials: EF
authors.lastname: Belligni
authors.affiliation: Laboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, Grenoble, France.
authors.forename: Charles
authors.initials: C
authors.lastname: Coutton
authors.affiliation: Medical Genetics Laboratory, Department of Obstetrics and Paediatrics, Università degli Studi di Parma, Parma, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Marinelli
authors.affiliation: Medical Genetics Laboratory, Department of Obstetrics and Paediatrics, Università degli Studi di Parma, Parma, Italy.
authors.forename: Veronica
authors.initials: V
authors.lastname: Barbieri
authors.affiliation: Neuroradiology Unit, Department of Diagnostic Imaging, Università degli Studi di Parma, Parma, Italy.
authors.forename: Manuela
authors.initials: M
authors.lastname: Napoli
authors.affiliation: Neuroradiology Unit, Department of Diagnostic Imaging, Università degli Studi di Parma, Parma, Italy.
authors.forename: Rosario
authors.initials: R
authors.lastname: Pascarella
authors.affiliation: Division of Paediatric Endocrinology and Diabetology, Department of Obstetrics and Paediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Università degli Studi di Parma, Parma, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Sartori
authors.affiliation: Laboratory of Neurogenetics and Neuroscience, Department of Neuroscience, Istituto 'G. Gaslini', Genova, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Madia
authors.affiliation: Medical Genetics Laboratory, Department of Obstetrics and Paediatrics, Università degli Studi di Parma, Parma, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Fusco
authors.affiliation: Medical Genetics Laboratory, Department of Obstetrics and Paediatrics, Università degli Studi di Parma, Parma, Italy.
authors.forename: Fabrizia
authors.initials: F
authors.lastname: Franchi
authors.affiliation: Division of Paediatric Endocrinology and Diabetology, Department of Obstetrics and Paediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Università degli Studi di Parma, Parma, Italy.
authors.forename: Maria E
authors.initials: ME
authors.lastname: Street
authors.affiliation: Clinical Genetics Unit, Università degli Studi di Parma, Parma, Italy.
authors.forename: Livia
authors.initials: L
authors.lastname: Garavelli
keywords: Diabetes; Endocrine disorders; Intellectual disability; Microduplication syndrome 17p13.1; Obesity