22q11.2 deletion syndrome is a condition with complex multisystem involvement, and many clinicians will encounter patients living with the condition. 22q11.2 deletion syndrome is known to significantly increase the risk of psychosis, and there is some emerging evidence that 22q11.2 deletion syndrome may be associated with an increased risk of malignancy. We report on a case of an adolescent female who had a delayed diagnosis of 22q11.2 deletion syndrome after she developed severe psychosis at an early age. She was subsequently diagnosed in late adolescence with papillary thyroid carcinoma. This case contributes to the limited body of evidence regarding the treatment of psychosis secondary to 22q11.2 deletion syndrome and the potential increased risk of malignancy associated with the genetic condition.
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Feng-Gu et al. (2024) studied this question.
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