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19p13.3 Deletion With Polyotia: A Case Report and Literature Review
Mutations at chromosome 19 are rare, and reports in the literature are scarce and clinically variable. This chromosome has a high genetic density, and hence a given deletion can cause distinctive effects on body systems and, in addition, result in a characteristic phenotype. We report the case of a...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8680017/ https://www.ncbi.nlm.nih.gov/pubmed/34976455 http://dx.doi.org/10.7759/cureus.19661 |
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author | Silvera Redondo, Carlos Avendaño Capriles, Camilo Andrés Fernández Sánchez, David David Espinosa, Ricardo Acostamadiedo Marx, Ana Sofía |
author_facet | Silvera Redondo, Carlos Avendaño Capriles, Camilo Andrés Fernández Sánchez, David David Espinosa, Ricardo Acostamadiedo Marx, Ana Sofía |
author_sort | Silvera Redondo, Carlos |
collection | PubMed |
description | Mutations at chromosome 19 are rare, and reports in the literature are scarce and clinically variable. This chromosome has a high genetic density, and hence a given deletion can cause distinctive effects on body systems and, in addition, result in a characteristic phenotype. We report the case of a patient who presented with distinctive signs and symptoms such as delayed psychomotor development, severe postnatal delay, dolichocephaly, polyotia, and ocular hypertelorism. Even though all cases with a chromosome 19 deletion do not present in the same way, they still share some clinical manifestations that should be considered, which prompted us to present a summary of the available literature on the subject. Additionally, to our knowledge, this is the first and only case with polyotia in its phenotype to be reported in Colombia to date. |
format | Online Article Text |
id | pubmed-8680017 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-86800172021-12-30 19p13.3 Deletion With Polyotia: A Case Report and Literature Review Silvera Redondo, Carlos Avendaño Capriles, Camilo Andrés Fernández Sánchez, David David Espinosa, Ricardo Acostamadiedo Marx, Ana Sofía Cureus Genetics Mutations at chromosome 19 are rare, and reports in the literature are scarce and clinically variable. This chromosome has a high genetic density, and hence a given deletion can cause distinctive effects on body systems and, in addition, result in a characteristic phenotype. We report the case of a patient who presented with distinctive signs and symptoms such as delayed psychomotor development, severe postnatal delay, dolichocephaly, polyotia, and ocular hypertelorism. Even though all cases with a chromosome 19 deletion do not present in the same way, they still share some clinical manifestations that should be considered, which prompted us to present a summary of the available literature on the subject. Additionally, to our knowledge, this is the first and only case with polyotia in its phenotype to be reported in Colombia to date. Cureus 2021-11-17 /pmc/articles/PMC8680017/ /pubmed/34976455 http://dx.doi.org/10.7759/cureus.19661 Text en Copyright © 2021, Silvera Redondo et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Genetics Silvera Redondo, Carlos Avendaño Capriles, Camilo Andrés Fernández Sánchez, David David Espinosa, Ricardo Acostamadiedo Marx, Ana Sofía 19p13.3 Deletion With Polyotia: A Case Report and Literature Review |
title | 19p13.3 Deletion With Polyotia: A Case Report and Literature Review |
title_full | 19p13.3 Deletion With Polyotia: A Case Report and Literature Review |
title_fullStr | 19p13.3 Deletion With Polyotia: A Case Report and Literature Review |
title_full_unstemmed | 19p13.3 Deletion With Polyotia: A Case Report and Literature Review |
title_short | 19p13.3 Deletion With Polyotia: A Case Report and Literature Review |
title_sort | 19p13.3 deletion with polyotia: a case report and literature review |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8680017/ https://www.ncbi.nlm.nih.gov/pubmed/34976455 http://dx.doi.org/10.7759/cureus.19661 |
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