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Deletion Syndrome 22q11.2: A Systematic Review
22q11.2 deletion syndrome (DS 22q11.2) is a rare disease of genetic origin, caused by the loss of the q11.2 region of chromosome 22. It affects one in 4000 live newborns, and among the clinical manifestations that can occur in this syndrome are abnormalities in the parathyroid glands (producing calc...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9406687/ https://www.ncbi.nlm.nih.gov/pubmed/36010058 http://dx.doi.org/10.3390/children9081168 |
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author | Cortés-Martín, Jonathan Peñuela, Nuria López Sánchez-García, Juan Carlos Montiel-Troya, Maria Díaz-Rodríguez, Lourdes Rodríguez-Blanque, Raquel |
author_facet | Cortés-Martín, Jonathan Peñuela, Nuria López Sánchez-García, Juan Carlos Montiel-Troya, Maria Díaz-Rodríguez, Lourdes Rodríguez-Blanque, Raquel |
author_sort | Cortés-Martín, Jonathan |
collection | PubMed |
description | 22q11.2 deletion syndrome (DS 22q11.2) is a rare disease of genetic origin, caused by the loss of the q11.2 region of chromosome 22. It affects one in 4000 live newborns, and among the clinical manifestations that can occur in this syndrome are abnormalities in the parathyroid glands (producing calcium deficits), the palate, the heart and the thymus. It is also known as DiGeorge syndrome or velocardiofacial syndrome, among other names, depending on the clinical presentation of each individual. The main objective of the review was to update information on DS 22q11.2 from publications in the scientific literature. The daily activities of these patients are seriously impaired, due to the impact of the clinical manifestations. Interventions can be performed to improve their social, cognitive and emotional skills, thus increasing their ability to perform different daily activities. |
format | Online Article Text |
id | pubmed-9406687 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-94066872022-08-26 Deletion Syndrome 22q11.2: A Systematic Review Cortés-Martín, Jonathan Peñuela, Nuria López Sánchez-García, Juan Carlos Montiel-Troya, Maria Díaz-Rodríguez, Lourdes Rodríguez-Blanque, Raquel Children (Basel) Systematic Review 22q11.2 deletion syndrome (DS 22q11.2) is a rare disease of genetic origin, caused by the loss of the q11.2 region of chromosome 22. It affects one in 4000 live newborns, and among the clinical manifestations that can occur in this syndrome are abnormalities in the parathyroid glands (producing calcium deficits), the palate, the heart and the thymus. It is also known as DiGeorge syndrome or velocardiofacial syndrome, among other names, depending on the clinical presentation of each individual. The main objective of the review was to update information on DS 22q11.2 from publications in the scientific literature. The daily activities of these patients are seriously impaired, due to the impact of the clinical manifestations. Interventions can be performed to improve their social, cognitive and emotional skills, thus increasing their ability to perform different daily activities. MDPI 2022-08-03 /pmc/articles/PMC9406687/ /pubmed/36010058 http://dx.doi.org/10.3390/children9081168 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Systematic Review Cortés-Martín, Jonathan Peñuela, Nuria López Sánchez-García, Juan Carlos Montiel-Troya, Maria Díaz-Rodríguez, Lourdes Rodríguez-Blanque, Raquel Deletion Syndrome 22q11.2: A Systematic Review |
title | Deletion Syndrome 22q11.2: A Systematic Review |
title_full | Deletion Syndrome 22q11.2: A Systematic Review |
title_fullStr | Deletion Syndrome 22q11.2: A Systematic Review |
title_full_unstemmed | Deletion Syndrome 22q11.2: A Systematic Review |
title_short | Deletion Syndrome 22q11.2: A Systematic Review |
title_sort | deletion syndrome 22q11.2: a systematic review |
topic | Systematic Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9406687/ https://www.ncbi.nlm.nih.gov/pubmed/36010058 http://dx.doi.org/10.3390/children9081168 |
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