title: Psychotic features as the first manifestation of 22q11.2 deletion syndrome.
abstract: 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.
authors.affiliation: Department of Psychiatry, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: So Dahm
authors.initials: SD
authors.lastname: Kook
authors.forename: Suk Kyoon
authors.initials: SK
authors.lastname: An
authors.forename: Kyung Ran
authors.initials: KR
authors.lastname: Kim
authors.forename: Woo Jung
authors.initials: WJ
authors.lastname: Kim
authors.forename: Eun
authors.initials: E
authors.lastname: Lee
authors.forename: Kee
authors.initials: K
authors.lastname: Namkoong
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