DiGeorge syndrome is disorder caused by the loss (deletion) of a small fragment of chromosome 22. It is one of the most common causes of intellectual disability. Along with Down syndrome DiGeorge syndrome is the most common genetic cause of congenital cardiac illnesses. The characteristics of the syndrome are very varied and affect many parts of the body and so its prognosis and treatment are very variable.

The prevalence is estimated at 1 in 4000 – 5000 births. The rate of infant mortality is relatively low (~4%); in adults mortality is higher than in the rest of the adult population.

Most frequent clinical findings in patients with DiGeorge syndrome – 22q11.2 deletion:

  • Cardiac defects
  • Palate anomalies
  • Facial dimorphism
  • Delayed development
  • Immunodeficiency
  • Learning problems

Additional information

22q.org – The international 22q11 foundation inc

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