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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...

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Autores principales: Cortés-Martín, Jonathan, Peñuela, Nuria López, Sánchez-García, Juan Carlos, Montiel-Troya, Maria, Díaz-Rodríguez, Lourdes, Rodríguez-Blanque, Raquel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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.
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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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