Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review

Interstitial 8p deletions were previously described, in literature and databases, in approximately 30 patients with neurodevelopmental disorders. We report on a novel patient with a 8p21.2p11.21 deletion presenting a clinical phenotype that includes severe intellectual disability, microcephaly, epil...

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Autores principales: Arghir, Aurora, Papuc, Sorina Mihaela, Tutulan‐Cunita, Andreea‐Cristina, Erbescu, Alina, Loddo, Sara, Genovese, Silvia, Ciocca, Laura, Goldoni, Marina, Piscopo, Carmelo, Bernardini, Laura, Novelli, Antonio, Budisteanu, Magdalena
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/PMC7813129/
https://www.ncbi.nlm.nih.gov/pubmed/33505690
http://dx.doi.org/10.1002/ccr3.3523
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author Arghir, Aurora
Papuc, Sorina Mihaela
Tutulan‐Cunita, Andreea‐Cristina
Erbescu, Alina
Loddo, Sara
Genovese, Silvia
Ciocca, Laura
Goldoni, Marina
Piscopo, Carmelo
Bernardini, Laura
Novelli, Antonio
Budisteanu, Magdalena
author_facet Arghir, Aurora
Papuc, Sorina Mihaela
Tutulan‐Cunita, Andreea‐Cristina
Erbescu, Alina
Loddo, Sara
Genovese, Silvia
Ciocca, Laura
Goldoni, Marina
Piscopo, Carmelo
Bernardini, Laura
Novelli, Antonio
Budisteanu, Magdalena
author_sort Arghir, Aurora
collection PubMed
description Interstitial 8p deletions were previously described, in literature and databases, in approximately 30 patients with neurodevelopmental disorders. We report on a novel patient with a 8p21.2p11.21 deletion presenting a clinical phenotype that includes severe intellectual disability, microcephaly, epilepsy, and autism, the latter having been rarely associated with this genetic defect.
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spelling pubmed-78131292021-01-26 Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review Arghir, Aurora Papuc, Sorina Mihaela Tutulan‐Cunita, Andreea‐Cristina Erbescu, Alina Loddo, Sara Genovese, Silvia Ciocca, Laura Goldoni, Marina Piscopo, Carmelo Bernardini, Laura Novelli, Antonio Budisteanu, Magdalena Clin Case Rep Case Reports Interstitial 8p deletions were previously described, in literature and databases, in approximately 30 patients with neurodevelopmental disorders. We report on a novel patient with a 8p21.2p11.21 deletion presenting a clinical phenotype that includes severe intellectual disability, microcephaly, epilepsy, and autism, the latter having been rarely associated with this genetic defect. John Wiley and Sons Inc. 2020-11-12 /pmc/articles/PMC7813129/ /pubmed/33505690 http://dx.doi.org/10.1002/ccr3.3523 Text en © 2020 The Authors. 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-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Arghir, Aurora
Papuc, Sorina Mihaela
Tutulan‐Cunita, Andreea‐Cristina
Erbescu, Alina
Loddo, Sara
Genovese, Silvia
Ciocca, Laura
Goldoni, Marina
Piscopo, Carmelo
Bernardini, Laura
Novelli, Antonio
Budisteanu, Magdalena
Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review
title Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review
title_full Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review
title_fullStr Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review
title_full_unstemmed Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review
title_short Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review
title_sort autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: case report and literature review
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7813129/
https://www.ncbi.nlm.nih.gov/pubmed/33505690
http://dx.doi.org/10.1002/ccr3.3523
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