ArticlePsychiatry investigation2010
Psychotic features as the first manifestation of 22q11.2 deletion syndrome.
Article in Psychiatry investigation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- Adverse effects of antipsychotic medication in patients with 22q11.2 deletion syndrome: A systematic review.American journal of medical genetics. Part A · 2019Pooled it
- Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study.Internal medicine journal · 2024Review
- Early-onset psychosis in an adolescent with DiGeorge syndrome: A case report.The South African journal of psychiatry : SAJP : the journal of the Society of Psychiatrists of South Africa · 2018Article
- Disrupted working memory circuitry and psychotic symptoms in 22q11.2 deletion syndrome.NeuroImage. Clinical · 2014Article
- Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor.Genes, chromosomes & cancer · 2011Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
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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.
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