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Brief Psychotic Episode in a Patient with Heterozygous 17p13.1 Deletion Including KDM6B
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Keywords

17p13.1 microdeletion
KDM6B
Psychosis
Brief psychotic episode

Categories

Abstract

The 17p13.1 microdeletion is a rare chromosomal abnormality associated with intellectual disability, neurodevelopmental delay, and variable oncologic risk. Alterations involving the KDM6B gene in this region have been linked to neurodevelopmental disorders and, in some cases, psychiatric manifestations. We report the case of a 16-year-old adolescent with a heterozygous 17p13.1 deletion and a prior diagnosis of attention deficit hyperactivity disorder (ADHD) who developed a brief psychotic episode characterized by recurrent visual hallucinations and severe anxiety. The patient showed a favorable response to treatment with an atypical antipsychotic, a selective serotonin reuptake inhibitor, and short-term benzodiazepine use, achieving full remission after three months. This case underscores the potential contribution of rare structural variants to the emergence of psychotic symptoms in adolescents and highlights the importance of a multidisciplinary clinical approach.

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Copyright (c) 2026 Enrique Eduardo Hernandez Aranda, Alejandro Gaviño Vergara, Erika Nayeli Mijangos Moreno, Lourdes Alejandra Magaña Puc, Zoila Patricia López Cárdenas

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