Deletion Syndrome 22q11.2: A Systematic Review
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Cortés Martín, Jonathan; Sánchez García, Juan Carlos; Montiel Troya, María; Díaz Rodríguez, Consuelo Lourdes; Rodríguez Blanque, RaquelEditorial
MDPI
Materia
22q11.2 deletion syndrome DiGeorge syndrome Velocardiofacial syndrome Rare disease Congenital anomalies Daily activities
Date
2022-08-03Referencia bibliográfica
Cortés-Martín, J... [et al.]. Deletion Syndrome 22q11.2: A Systematic Review. Children 2022, 9, 1168. [https://doi.org/10.3390/children9081168]
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Colegio Oficial de Enfermeria de Granada (CODEGRA)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.