Recurrent deletions and duplications at the 2q13 locus have been associated with developmental delay (DD) and dysmorphisms. We aimed to undertake detailed clinical characterization of individuals with 2q13 copy number variations (CNVs), with a focus on behavioral and psychiatric phenotypes. Participants were recruited via the Unique chromosomal disorder support group, U.K. National Health Service Regional Genetics Centres, and the DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources (DECIPHER) database. A review of published 2q13 patient case reports was undertaken to enable combined phenotypic analysis. We present a new case series of 2q13 CNV carriers (21 deletion, 4 duplication) and the largest ever combined analysis with data from published studies, making a total of 54 deletion and 23 duplication carriers. DD/intellectual disabilities was identified in the majority of carriers (79% deletion, 70% duplication), although in the new cases 52% had an IQ in the borderline or normal range. Despite the median age of the new cases being only 9 years, 64% had a clinical psychiatric diagnosis. Combined analysis found attention deficit hyperactivity disorder (ADHD) to be the most frequent diagnosis (48% deletion, 60% duplication), followed by autism spectrum disorders (33% deletion, 17% duplication). Aggressive (33%) and self-injurious behaviors (33%) were also identified in the new cases. CNVs at 2q13 are typically associated with DD with mildly impaired intelligence, and a high rate of childhood psychiatric diagnoses-particularly ADHD. We have further characterized the clinical phenotype related to imbalances of the 2q13 region and identified it as a region of interest for the neurobiological investigation of ADHD.

A sample of 147 special security patients with no demonstrated chromosome abnormality, and with no evidence of brain damage or psychosis, was compared with two groups of genetically abnormal patients, evincing an XXY or XYY chromosome pattern. The XXY patients were significantly lower in verbal and performance ability than were the patients in the other two groups. They were also more defensive in answering a personality questionnaire, but this was shown to be partly a function of their lower intelligence. Both of the genetically abnormal groups contained a higher proportion of subjects with significantly depressed verbal abilities than in the control group, though the trend was similar for all three groups. Approximately two-thirds of both genetically abnormal groups committed some form of sex crime. It was suggested that this might indicate a specific genetic-based lag in mental aspects of sexual maturation in addition to the already demonstrated general social instability. (PsycINFO Database Record (c) 2016 APA, all rights reserved)

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