@misc{10481/76957,
year = {2022},
month = {8},
url = {https://hdl.handle.net/10481/76957},
abstract = {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.},
organization = {Colegio Oficial de Enfermeria de Granada (CODEGRA)},
publisher = {MDPI},
keywords = {22q11.2 deletion syndrome},
keywords = {DiGeorge syndrome},
keywords = {Velocardiofacial syndrome},
keywords = {Rare disease},
keywords = {Congenital anomalies},
keywords = {Daily activities},
title = {Deletion Syndrome 22q11.2: A Systematic Review},
doi = {10.3390/children9081168},
author = {Cortés Martín, Jonathan and Sánchez García, Juan Carlos and Montiel Troya, María and Díaz Rodríguez, Consuelo Lourdes and Rodríguez Blanque, Raquel},
}