title: Concomitant deletion of chromosome 16p13.11 and triplication of chromosome 19p13.3 in a child with developmental disorders, intellectual disability, and epilepsy.
abstract: BACKGROUND
  Rare copy number variations (CNVs) are today recognized as an important cause of various neurodevelopmental disorders, including mental retardation and epilepsy. In some cases, a second CNV may contribute to a more severe clinical presentation.
  
  
  RESULTS
  Here we describe a patient with epilepsy, mental retardation, developmental disorders, and dysmorphic features, who inherited a deletion of 16p13.11 and a triplication of 19p13.3 from his father and mother, respectively. The mother presented mild mental retardation and language delay too.
  
  
  CONCLUSIONS
  We discuss the phenotypic consequences of the two CNVs and suggest that their synergistic effect is likely responsible for the complicated clinical features observed in our patient.
authors.affiliation: Laboratorio di Citogenetica, Istituto G.Gaslini, L.go G.Gaslini 5, 16147 Genoa, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Tassano
authors.affiliation: SSD Genetica Medica, Ospedale S. Andrea, La Spezia, Italy.
authors.forename: Lucia Rosaia
authors.initials: LR
authors.lastname: De Santis
authors.affiliation: SS Neonatologia Fisiologica, Ospedale S. Andrea, La Spezia, Italy.
authors.forename: Maria Franca
authors.initials: MF
authors.lastname: Corona
authors.affiliation: SC Pediatria e Neonatologia, Ospedale S. Andrea, La Spezia, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Parmigiani
authors.affiliation: SSD Genetica Medica, Ospedale S. Andrea, La Spezia, Italy.
authors.forename: Dalila
authors.initials: D
authors.lastname: Zanetti
authors.affiliation: Laboratorio di Citogenetica, Istituto G.Gaslini, L.go G.Gaslini 5, 16147 Genoa, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Porta
authors.affiliation: Laboratorio di Citogenetica, Istituto G.Gaslini, L.go G.Gaslini 5, 16147 Genoa, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Gimelli
authors.affiliation: Laboratorio di Citogenetica, Istituto G.Gaslini, L.go G.Gaslini 5, 16147 Genoa, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Cuoco
keywords: 16p13.11; 19p13.3; Array-CGH; Deletion; Developmental disorders; Epilepsy; Intellectual disability; Triplication