title: Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion.
abstract: BACKGROUND
  Interstitial deletions of chromosome bands 14q24.1q24.3 are very rare with only three reported cases.
  
  
  RESULTS
  We describe a 7-year-old boy with a 5.345 Mb de novo interstitial deletion at 14q24.1q24.3 band detected by array-CGH who had a complex phenotype characterized by seizures, congenital heart defects, dysmorphisms, psychomotor delay, and bronchopulmonary, skeletal, and brain anomalies.
  
  
  CONCLUSIONS
  The deleted region contains numerous genes, but we focused our attention on three of them (C14orf169, NUMB, and PSEN1), which could account, at least partially, for the phenotype of the boy. We therefore discuss the involvement of these genes and the observed phenotype compared to that of previously described patients.
authors: Laboratorio di Citogenetica, Istituto G.Gaslini, L.go G.Gaslini 5, Genoa 16147, Italy.
authors: Elisa
authors: E
authors: Tassano
authors: Pediatric Pulmonology and Allergy Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors: Andrea
authors: A
authors: Accogli
authors: Pediatric Pulmonology and Allergy Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors: Serena
authors: S
authors: Panigada
authors: Laboratorio di Citogenetica, Istituto G.Gaslini, L.go G.Gaslini 5, Genoa 16147, Italy.
authors: Patrizia
authors: P
authors: Ronchetto
authors: Laboratorio di Citogenetica, Istituto G.Gaslini, L.go G.Gaslini 5, Genoa 16147, Italy.
authors: Cristina
authors: C
authors: Cuoco
authors: Laboratorio di Citogenetica, Istituto G.Gaslini, L.go G.Gaslini 5, Genoa 16147, Italy.
authors: Giorgio
authors: G
authors: Gimelli
keywords: Array-CGH; De novo; Genotype-phenotype correlation; Interstitial 14q24.1q24.3 deletion