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Psychiatric Genetics:
doi: 10.1097/YPG.0b013e3283539604
Brief Reports

Attention-deficit hyperactivity disorder and binge eating disorder in a patient with 2q21.1–q22.2 deletion

Porfirio, Maria Cristinaa; Lo-Castro, Adrianaa; Giana, Graziaa; Giovinazzo, Silviaa; Purper Ouakil, Dianeb; Galasso, Cinziaa; Curatolo, Paoloa

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Abstract

We report the case of a young male with attention-deficit hyperactivity disorder, oppositional defiant disorder, eating problems and overweight, and mild mental retardation. Karyotype analysis detected an apparently balanced translocation: t(1;2)(p34.1;q21.1) de novo. Array comparative genomic hybridization analysis defined a de-novo cryptic deletion of 2q21.1–q22.2 bands. The deletion, here first associated with this complex phenotype, encompasses several genes with a putative role in different domains of behavioral control and neurocognitive functions; their deregulated expression may influence metabolic pathways and the role of dopamine in reward, explaining the complex psychiatric phenotype and the pharmacotherapy response described in our patient.

© 2012 Lippincott Williams & Wilkins, Inc.

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