Deletion Syndrome 22q11.2: A Systematic Review
| Autor: | Jonathan Cortés-Martín, Nuria López Peñuela, Juan Carlos Sánchez-García, Maria Montiel-Troya, Lourdes Díaz-Rodríguez, Raquel Rodríguez-Blanque |
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| Přispěvatelé: | 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 |
| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
Congenital anomalies
Velocardiofacial syndrome Daily activities Pathological Conditions Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases [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 [DISEASES] personas::Grupos de Edad::lactante::recién nacido [DENOMINACIONES DE GRUPOS] 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 [ENFERMEDADES] Persons::Age Groups::Infant::Infant Newborn [NAMED GROUPS] Anomalies cromosòmiques afecciones patológicas signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras [ENFERMEDADES] 22q11.2 deletion syndrome Pediatrics Perinatology and Child Health Malalties congènites Malalties rares DiGeorge syndrome Rare disease |
| Zdroj: | Scientia |
| Popis: | 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. Colegio Oficial de Enfermeria de Granada (CODEGRA) |
| Databáze: | OpenAIRE |
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