title: Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype.
abstract: BACKGROUND
  Few patients with interstitial deletions in the distal long arm of chromosome 14 have been reported, and these patients showed rather indistinct features, including growth and mental retardation and phenotypic alterations.
  
  
  RESULTS
  We describe a de novo 14q interstitial deletion in a 6-year-old boy with dysmorphic facial traits such as hypertelorism, short and narrow palpebral fissures, broad nose with anteverted nostrils, long philtrum, thin upper lip with cupid's bow, prominent and everted lower lip, mildly low-set ears, as well as moderate developmental delay and mild mental retardation. Array-CGH mapped the deletion to the region 14q24.3 to 14q31.3, including 13.11 Mb, proximal to the imprinted genomic region of 14q32.
  
  
  CONCLUSIONS
  This mild phenotypic presentation suggests that the deleted segment does not contain essential genes for early organ development. Twenty-two genes with known functions, including Neurexin III (NRXN3, OMIM 600567), map to the region deleted in the propositus.
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, 90035-003 Porto Alegre, RS Brazil ; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, RS Brazil ; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
authors.forename: Mariluce
authors.initials: M
authors.lastname: Riegel
authors.affiliation: Laboratory of Human Genetics and Mutagenesis; Genetics & Society Program, Institute of Biology, Federal University of Bahia (UFBA), Salvador, Bahia Brazil.
authors.forename: Lilia Ma
authors.initials: LM
authors.lastname: Moreira
authors.affiliation: Laboratory of Human Genetics and Mutagenesis; Genetics & Society Program, Institute of Biology, Federal University of Bahia (UFBA), Salvador, Bahia Brazil.
authors.forename: Layla D
authors.initials: LD
authors.lastname: Espirito Santo
authors.affiliation: Postgraduate Studies Program in Interactive Processes of Organs and Systems, Institute of Health Sciences, Federal University of Bahia (UFBA), Salvador, Bahia Brazil.
authors.forename: Maria Betânia P
authors.initials: MB
authors.lastname: Toralles
authors.affiliation: Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
authors.forename: Albert
authors.initials: A
authors.lastname: Schinzel
keywords: 14q interstitial deletion; Array-CGH; Genotype-phenotype correlation