Sistema de Salut de Catalunya
Institut Català de la Salut
[Cortés-Martín J, Sánchez-García JC, Díaz-Rodríguez L] Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, Granada, Spain. Department of Nursing, School of Health Sciences, University of Granada, Granada, Spain. [López Peñuela N] Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Montiel-Troya M] Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, Granada, Spain. Department of Nursing, School of Health Sciences, Ceuta Campus, University of Granada, Ceuta, Spain. [Rodríguez-Blanque R] Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, Granada, Spain. San Cecilio University Hospital, Granada, Spain
Vall d'Hebron Barcelona Hospital Campus
2023-01-13T13:05:01Z
2023-01-13T13:05:01Z
2022-08-03
DiGeorge syndrome; Congenital anomalies; Velocardiofacial syndrome
Síndrome de DiGeorge; Anomalías congénitas; Síndrome velocardiofacial
Síndrome de DiGeorge; Anomalies congènites; Síndrome velocardiofacial
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.
Article
Published version
English
Malalties congènites; Malalties rares; Anomalies cromosòmiques; DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Chromosome Disorders::22q11 Deletion Syndrome; NAMED GROUPS::Persons::Age Groups::Infant::Infant, Newborn; DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases; ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::trastornos cromosómicos::síndrome de deleción 22q11; DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::lactante::recién nacido; ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras
MDPI
Children;9(8)
https://doi.org/10.3390/children9081168
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
Articles científics - HVH [3437]
