title: A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.
abstract: A recently described genetic disorder has been associated with 13q12.3 microdeletion spanning three genes, namely, KATNAL1, LINC00426, and HMGB1. Here, we report a new case with similar clinical features that we have followed from birth to 5 years old. The child carried a complex rearrangement with a double translocation: 46,XX,t(7;13)(p15;q14),t(11;15)(q23;q22). Array-CGH identified a de novo microdeletion at 13q12.2q13.1 spanning 3-3.4 Mb and overlapping 13q12.3 critical region. Clinical features resembling those reported in the literature confirm the existence of a distinct 13q12.3 microdeletion syndrome and provide further evidence that is useful to characterize its phenotypic expression during the 5 years of development.
authors.affiliation: Medical Genetics Unit, "San Luigi Gonzaga" University Hospital, University of Torino, Regione Gonzole 10, 10143 Orbassano, Italy ; Department of Clinical & Biological Sciences, University of Torino, 10143 Orbassano, Italy.
authors.forename: Giorgia
authors.identifier: 0000-0003-0849-2225
authors.initials: G
authors.lastname: Mandrile
authors.affiliation: Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy ; Medical Genetics, "Città della Salute e della Scienza" University Hospital, 10126 Torino, Italy.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Di Gregorio
authors.affiliation: Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Calcia
authors.affiliation: Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy.
authors.forename: Alessandro
authors.identifier: 0000-0003-3825-8739
authors.initials: A
authors.lastname: Brussino
authors.affiliation: Medical Genetics, "Città della Salute e della Scienza" University Hospital, 10126 Torino, Italy.
authors.forename: Enrico
authors.identifier: 0000-0001-5314-6255
authors.initials: E
authors.lastname: Grosso
authors.affiliation: Medical Genetics, "Città della Salute e della Scienza" University Hospital, 10126 Torino, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Savin
authors.affiliation: Medical Genetics Unit, "San Luigi Gonzaga" University Hospital, University of Torino, Regione Gonzole 10, 10143 Orbassano, Italy ; Department of Clinical & Biological Sciences, University of Torino, 10143 Orbassano, Italy.
authors.forename: Daniela Francesca
authors.identifier: 0000-0002-3186-6726
authors.initials: DF
authors.lastname: Giachino
authors.affiliation: Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy ; Medical Genetics, "Città della Salute e della Scienza" University Hospital, 10126 Torino, Italy.
authors.forename: Alfredo
authors.identifier: 0000-0002-8318-7231
authors.initials: A
authors.lastname: Brusco