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

Marco Cascella, Maria Rosaria Muzio

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)283-286
Number of pages4
JournalRevista Chilena de Pediatria
Issue number4
Publication statusPublished - 2015


  • 22q11 deletion syndrome
  • Cognitive impairment
  • DiGeorge syndrome
  • Intellectual disability disorders
  • Microdeletion syndrome
  • Tetralogy of Fallot
  • Velocardiofacial syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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