Early onset intellectual disability in chromosome 22q11.2 deletion syndrome
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Keywords

DiGeorge Syndrome
Velocardiofacial Syndrome
Microdeletion Syndrome
22q11 Deletion Ssyndrome
Tetralogy of Fallot
Cognitive Impairment
Intellectual Disability Disorders
Genetic
Neurology
Genetic Disorder
Intellectual Disability

How to Cite

1.
Cascella M, Muzio MR. Early onset intellectual disability in chromosome 22q11.2 deletion syndrome. Andes pediatr [Internet]. 2015 Aug. 6 [cited 2025 Oct. 22];86(4):283-6. Available from: https://andespediatrica.cl/index.php/rchped/article/view/3243

Abstract

Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven the greatest amount of attention are behavioral and developmental features, because individuals with 22q11.2 deletion syndrome have a 30-fold risk of developing schizophrenia. There are differing opinions about the cognitive development, and commonly a cognitive decline rather than an early onset intellectual disability has been observed. We report a case of 22q11.2 deletion syndrome with both early assessment of mild intellectual disabilities and tetralogy of Fallot as the only physic manifestation.
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