What is 22Q Deletion?

22Q Deletion Syndrome is genetic condition caused by a deletion in the 22nd Chromosome.  It is also know has Velo-Cardio-Facial Syndrome (VCFS) and DiGeorge Syndrome. The most common features of this syndrome are:

  • palatal abnormalities (such as cleft lip and/or palate)
  • feeding difficulties
  • conotruncal heart defects (e.g., tetralogy of Fallot, interrupted aortic arch, ventricular septal defects, vascular rings)
  • hypocalcemia (low blood calcium levels)
  • mental retardation (usually borderline to mild)
  • IQs are generally in the 70 to 90 range
  • psychiatric disorders in adults (e.g., schizophrenia, bipolar disorder)
  • severe immunologic dysfunction (an immune system which does not work properly due to abnormal T-cells, causing frequent infections).

See our links page to learn more about this syndrome.