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. © 2015 Nicita et al.
Neurological features of 14q24-q32 interstitial deletion: report of a new case / Nicita, Francesco; Di Giacomo, Marilena; Palumbo, Orazio; Ferri, Emanuela; Maiorani, Daniela; Vigevano, Federico; Carella, Massimo; Capuano, Alessandro. - In: MOLECULAR CYTOGENETICS. - ISSN 1755-8166. - ELETTRONICO. - 8:1(2015). [10.1186/s13039-015-0196-6]
Neurological features of 14q24-q32 interstitial deletion: report of a new case
NICITA, Francesco;
2015
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. © 2015 Nicita et al.File | Dimensione | Formato | |
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