Case report: Novel phenotype in central 22q11.2 deletion syndrome

Deletions within 22q11.2 are one of the most common microdeletions studied. We report a case of central 22q11.2 deletion with abnormal dentition, a feature not previously described in this condition. Although the diagnosis of central 22q11.2 deletion syndrome requires genetic testing, we aim to faci...

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Detalles Bibliográficos
Autores principales: Dideum, Patrick, Rohena, Luis, Berg, Janet, Percival, Candace
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752388/
https://www.ncbi.nlm.nih.gov/pubmed/33363922
http://dx.doi.org/10.1002/ccr3.2870
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author Dideum, Patrick
Rohena, Luis
Berg, Janet
Percival, Candace
author_facet Dideum, Patrick
Rohena, Luis
Berg, Janet
Percival, Candace
author_sort Dideum, Patrick
collection PubMed
description Deletions within 22q11.2 are one of the most common microdeletions studied. We report a case of central 22q11.2 deletion with abnormal dentition, a feature not previously described in this condition. Although the diagnosis of central 22q11.2 deletion syndrome requires genetic testing, we aim to facilitate clinical recognition, expediting diagnosis.
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spelling pubmed-77523882020-12-23 Case report: Novel phenotype in central 22q11.2 deletion syndrome Dideum, Patrick Rohena, Luis Berg, Janet Percival, Candace Clin Case Rep Case Reports Deletions within 22q11.2 are one of the most common microdeletions studied. We report a case of central 22q11.2 deletion with abnormal dentition, a feature not previously described in this condition. Although the diagnosis of central 22q11.2 deletion syndrome requires genetic testing, we aim to facilitate clinical recognition, expediting diagnosis. John Wiley and Sons Inc. 2020-10-18 /pmc/articles/PMC7752388/ /pubmed/33363922 http://dx.doi.org/10.1002/ccr3.2870 Text en © Published 2020. This article is a U.S. Government work and is in the public domain in the USA. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Dideum, Patrick
Rohena, Luis
Berg, Janet
Percival, Candace
Case report: Novel phenotype in central 22q11.2 deletion syndrome
title Case report: Novel phenotype in central 22q11.2 deletion syndrome
title_full Case report: Novel phenotype in central 22q11.2 deletion syndrome
title_fullStr Case report: Novel phenotype in central 22q11.2 deletion syndrome
title_full_unstemmed Case report: Novel phenotype in central 22q11.2 deletion syndrome
title_short Case report: Novel phenotype in central 22q11.2 deletion syndrome
title_sort case report: novel phenotype in central 22q11.2 deletion syndrome
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752388/
https://www.ncbi.nlm.nih.gov/pubmed/33363922
http://dx.doi.org/10.1002/ccr3.2870
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