Psychiatry Investig.  2010 Mar;7(1):72-74.

Psychotic Features as the First Manifestation of 22q11.2 Deletion Syndrome

  • 1Department of Psychiatry, Yonsei University College of Medicine, Seoul, Korea.
  • 2Institute of Behavioral Science in Medicine, Yonsei University College of Medicine, Seoul, Korea.


The 22q11.2 deletion is a genetic disorder which is characterized by abnormalities in cardiac functioning, facial structure, neurobehavioral development, T cell functioning, and velopharyngeal insufficiencies. In the presented case study, 22q11.2 deletion was found in a patient who has psychotic symptoms only. A 25-year-old woman with a history of hypoparathyroidism and hypothyroidism presented with auditory hallucinations and persecutory delusions. After three months of treatment with antipsychotic medications, the patient was readmitted with generalized tonic-clonic seizures. The following week, the patient went into sepsis. A fluorescent in situ hybridization (FISH) analysis revealed the presence of a 22q11.2 microdeletion. This case study suggests that psychotic symptoms can develop prior to the typical symptoms of a 22q11.2 deletion. As such, psychiatrists should test for genetic abnormalities in patients with schizophrenia when these patients present with seizures and immunodeficiencies.


22q11.2 deletion; Schizophrenia; Seizure; Immunodeficiency; Velocardiofacial syndrome
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