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Psychiatr Genet. 2012 Aug;22(4):202-5. doi: 10.1097/YPG.0b013e3283539604.

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

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  • 1Department of Child Psychiatry Unit, Tor Vergata University of Rome, Rome, Italy.


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.

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