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.
aDepartment of Child Psychiatry Unit, ‘Tor Vergata’ University of Rome, Rome, Italy
bDepartment of Child and Adolescent Psychopathology, Robert Debré Hospital, Paris, France
Correspondence to Silvia Giovinazzo, MD, Department of Child Psychiatry Unit, ‘Tor Vergata’ University of Rome, Via Nomentana 1362, 00137 Rome, Italy Tel: +39 641 400 129; fax: +39 641 400 343; e-mail: email@example.com
Received February 20, 2011
Accepted November 3, 2011