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Revista chilena de pediatría

Print version ISSN 0370-4106

Abstract

CASCELLA, Marco  and  MUZIO, Maria Rosaria. Early onset intellectual disability in chromosome 22q11.2 deletion syndrome. Rev. chil. pediatr. [online]. 2015, vol.86, n.4, pp.283-286. ISSN 0370-4106.  http://dx.doi.org/10.1016/j.rchipe.2015.06.019.

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.

Keywords : DiGeorge syndrome; Velocardiofacial syndrome; Microdeletion syndrome; 22q11 deletion syndrome; Tetralogy of Fallot; Cognitive impairment; Intellectual disability disorders.

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