Neurological features of 14q24-q32 interstitial deletion: Report of a new case

Francesco Nicita, Marilena Di Giacomo, Orazio Palumbo, Emanuela Ferri, Daniela Maiorani, Federico Vigevano, Massimo Carella, Alessandro Capuano

Research output: Contribution to journalArticle

Abstract

Background: Interstitial deletions of the long arm of chromosome 14 involving the 14q24-q32 region have been reported in less than 20 patients. Previous studies mainly attempted to delineate recognizable facial dysmorphisms; conversely, descriptions on neurological features are limited to the presence of cognitive and motor delay, but no better characterization exists. Case presentation: In this paper we report on a patient with a de novo interstitial deletion of 5.5 Mb at 14q24.3-q31.1. The deletion encompasses 84 genes, including fourteen Mendelian genes. He presented with dysmorphic face, developmental delay, paroxysmal non-epileptic events and, subsequently, epilepsy. Conclusions: The clinical and molecular evaluation of this patient and the review of the literature expand the phenotype of 14q23-q32 deletion syndrome to include paroxysmal non-epileptic events and infantile-onset focal seizures.

Original languageEnglish
Article number93
JournalMolecular Cytogenetics
Volume8
Issue number1
DOIs
Publication statusPublished - Nov 24 2015

Keywords

  • 14q
  • EEG
  • epilepsy
  • microdeletion
  • myoclonus
  • seizures

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Genetics(clinical)
  • Biochemistry
  • Molecular Medicine
  • Biochemistry, medical

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