title: Interstitialde novo18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature.
abstract: BACKGROUND
  Deletions of the long arm of chromosome 18 cause a common autosomal syndrome clinically characterized by a protean clinical phenotype.
  
  
  METHODS
  We report on a 16-month-old male infant affected by fever attacks apparently unrelated with any infectious or inflammatory symptoms, growth retardation, bilateral vertical talus, congenital aural atresia, dysmorphisms, mild psychomotor delay, and peculiar neuroradiological features. Array-CGH analysis revealed one of the smallest 18q22.3q23 interstitial deletions involving five genes:TSHZ1,ZNF516,ZNF236, MBP,andGALR1.
  
  
  CONCLUSIONS
  Herein we focus on previously unreported heralding symptoms and neuroradiological abnormalities which enlarge the spectrum of 18q deletion syndrome demonstrating that a small deletion can determine a complex phenotype.
authors.affiliation: Laboratorio di Citogenetica, Istituto Giannina Gaslini, L.go G.Gaslini 5, 16147 Genoa, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Tassano
authors.affiliation: Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: Mariasavina
authors.initials: M
authors.lastname: Severino
authors.affiliation: Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Rosina
authors.affiliation: Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: Riccardo
authors.initials: R
authors.lastname: Papa
authors.affiliation: Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: Domenico
authors.initials: D
authors.lastname: Tortora
authors.affiliation: Laboratorio di Citogenetica, Istituto Giannina Gaslini, L.go G.Gaslini 5, 16147 Genoa, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Gimelli
authors.affiliation: Laboratorio di Citogenetica, Istituto Giannina Gaslini, L.go G.Gaslini 5, 16147 Genoa, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Cuoco
authors.affiliation: Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Picco
keywords: 18q- syndrome; Array CGH; Brain MRI; Diffusion tensor imaging; Radial diffusivity; Spectroscopy