Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion

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, cong...

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Autores principales: Tassano, Elisa, Accogli, Andrea, Panigada, Serena, Ronchetto, Patrizia, Cuoco, Cristina, Gimelli, Giorgio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115490/
https://www.ncbi.nlm.nih.gov/pubmed/25076984
http://dx.doi.org/10.1186/1755-8166-7-49
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author Tassano, Elisa
Accogli, Andrea
Panigada, Serena
Ronchetto, Patrizia
Cuoco, Cristina
Gimelli, Giorgio
author_facet Tassano, Elisa
Accogli, Andrea
Panigada, Serena
Ronchetto, Patrizia
Cuoco, Cristina
Gimelli, Giorgio
author_sort Tassano, Elisa
collection PubMed
description 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. CONCLUSION: 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.
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spelling pubmed-41154902014-07-31 Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion Tassano, Elisa Accogli, Andrea Panigada, Serena Ronchetto, Patrizia Cuoco, Cristina Gimelli, Giorgio Mol Cytogenet Case Report 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. CONCLUSION: 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. BioMed Central 2014-07-21 /pmc/articles/PMC4115490/ /pubmed/25076984 http://dx.doi.org/10.1186/1755-8166-7-49 Text en Copyright © 2014 Tassano et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/4.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Tassano, Elisa
Accogli, Andrea
Panigada, Serena
Ronchetto, Patrizia
Cuoco, Cristina
Gimelli, Giorgio
Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion
title Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion
title_full Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion
title_fullStr Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion
title_full_unstemmed Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion
title_short Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion
title_sort phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115490/
https://www.ncbi.nlm.nih.gov/pubmed/25076984
http://dx.doi.org/10.1186/1755-8166-7-49
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