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...

Full description

Saved in:
Bibliographic Details
Published in:Children (Basel) 2022-08, Vol.9 (8), p.1168
Main Authors: Cortés-Martín, Jonathan, Peñuela, Nuria López, Sánchez-García, Juan Carlos, Montiel-Troya, Maria, Díaz-Rodríguez, Lourdes, Rodríguez-Blanque, Raquel
Format: Article
Language:English
Subjects:
22q11.2 deletion syndrome
Chromosomes
congenital anomalies
daily activities
DiGeorge syndrome
Families & family life
Gene expression
Mothers
Pediatrics
Physiological aspects
Quality of life
rare disease
Rare diseases
Socioeconomic factors
Systematic Review
velocardiofacial syndrome
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:2227-9067
2227-9067
DOI:10.3390/children9081168