title: Attention-deficit hyperactivity disorder and binge eating disorder in a patient with 2q21.1-q22.2 deletion.
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.
authors.affiliation: Department of Child Psychiatry Unit, Tor Vergata University of Rome, Rome, Italy.
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Porfirio
authors.forename: Adriana
authors.initials: A
authors.lastname: Lo-Castro
authors.forename: Grazia
authors.initials: G
authors.lastname: Giana
authors.forename: Silvia
authors.initials: S
authors.lastname: Giovinazzo
authors.forename: Diane
authors.initials: D
authors.lastname: Purper Ouakil
authors.forename: Cinzia
authors.initials: C
authors.lastname: Galasso
authors.forename: Paolo
authors.initials: P
authors.lastname: Curatolo
mesh_terms: D000293:Adolescent; D001289:Attention Deficit Disorder with Hyperactivity / Q000150:complications* / Q000235:genetics*; D056912:Binge-Eating Disorder / Q000150:complications* / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype