Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3

We report on a 29-year-old Greek-Cypriot female with a de novo 6.3 Mb distal 10q26.2q26.3 deletion. She had a very mild neurocognitive phenotype with near normal development and intellect. In addition, she had certain distinctive features and postural orthostatic tachycardia. We review the relevant...

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Autores principales: Tanteles, George A., Nikolaou, Elpiniki, Christou, Yiolanda, Alexandrou, Angelos, Evangelidou, Paola, Christophidou-Anastasiadou, Violetta, Sismani, Carolina, Papacostas, Savvas S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4532806/
https://www.ncbi.nlm.nih.gov/pubmed/26294985
http://dx.doi.org/10.1155/2015/242891
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author Tanteles, George A.
Nikolaou, Elpiniki
Christou, Yiolanda
Alexandrou, Angelos
Evangelidou, Paola
Christophidou-Anastasiadou, Violetta
Sismani, Carolina
Papacostas, Savvas S.
author_facet Tanteles, George A.
Nikolaou, Elpiniki
Christou, Yiolanda
Alexandrou, Angelos
Evangelidou, Paola
Christophidou-Anastasiadou, Violetta
Sismani, Carolina
Papacostas, Savvas S.
author_sort Tanteles, George A.
collection PubMed
description We report on a 29-year-old Greek-Cypriot female with a de novo 6.3 Mb distal 10q26.2q26.3 deletion. She had a very mild neurocognitive phenotype with near normal development and intellect. In addition, she had certain distinctive features and postural orthostatic tachycardia. We review the relevant literature and postulate that certain of her features can be diagnostically relevant. This report illustrates the powerful diagnostic ability of array-CGH in the elucidation of relatively mild phenotypes.
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spelling pubmed-45328062015-08-20 Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3 Tanteles, George A. Nikolaou, Elpiniki Christou, Yiolanda Alexandrou, Angelos Evangelidou, Paola Christophidou-Anastasiadou, Violetta Sismani, Carolina Papacostas, Savvas S. Case Rep Genet Case Report We report on a 29-year-old Greek-Cypriot female with a de novo 6.3 Mb distal 10q26.2q26.3 deletion. She had a very mild neurocognitive phenotype with near normal development and intellect. In addition, she had certain distinctive features and postural orthostatic tachycardia. We review the relevant literature and postulate that certain of her features can be diagnostically relevant. This report illustrates the powerful diagnostic ability of array-CGH in the elucidation of relatively mild phenotypes. Hindawi Publishing Corporation 2015 2015-07-29 /pmc/articles/PMC4532806/ /pubmed/26294985 http://dx.doi.org/10.1155/2015/242891 Text en Copyright © 2015 George A. Tanteles et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Tanteles, George A.
Nikolaou, Elpiniki
Christou, Yiolanda
Alexandrou, Angelos
Evangelidou, Paola
Christophidou-Anastasiadou, Violetta
Sismani, Carolina
Papacostas, Savvas S.
Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3
title Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3
title_full Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3
title_fullStr Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3
title_full_unstemmed Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3
title_short Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3
title_sort mild phenotype in a patient with a de novo 6.3 mb distal deletion at 10q26.2q26.3
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4532806/
https://www.ncbi.nlm.nih.gov/pubmed/26294985
http://dx.doi.org/10.1155/2015/242891
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