Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism-associated CNVs are duplications of chromosome 15q. Although most cases of interstitial (int) dup(15) that present clinically are de novo and maternally derived or inherited, both pathogenic and unaffected paternal duplications of 15q have been identified. We performed a phenotype/genotype analysis of individuals with interstitial 15q duplications to broaden our understanding of the 15q syndrome and investigate the contribution of 15q duplication to increased autism risk. All subjects were recruited solely on the basis of interstitial duplication 15q11.2-q13 status. Comparative array genome hybridization was used to determine the duplication size and boundaries while the methylation status of the maternally methylated small nuclear ribonucleoprotein polypeptide N gene was used to determine the parent of origin of the duplication. We determined the duplication size and parental origin for 14 int dup(15) subjects: 10 maternal and 4 paternal cases. The majority of int dup(15) cases recruited were maternal in origin, most likely due to our finding that maternal duplication was coincident with autism spectrum disorder. The size of the duplication did not correlate with the severity of the phenotype as established by Autism Diagnostic Observation Scale calibrated severity score. We identified phenotypes not comprehensively described before in this cohort including mild facial dysmorphism, sleep problems and an unusual electroencephalogram variant. Our results are consistent with the hypothesis that the maternally expressed ubiquitin protein ligase E3A gene is primarily responsible for the autism phenotype in int dup(15) since all maternal cases tested presented on the autism spectrum.

This study adds to a growing body of literature that explores patterns and correlates of homicide among specific populations within the United States. Seeking to improve our understanding of correlates of female homicide, the authors explore the possibility that female victimization rates are influenced by conditions of sex-based inequality. Using data from 177 central cities of the United States, they develop a model that tests separately, and in combination, the effects of seven sociodemographic variables and six measures of differences in male and female socioeconomic status. The authors find that the social-structural model is neither altered nor improved by inclusion of the inequality variables. Further, no single inequality variable is found to be a statistically significant predictor of female homicide rates when controlling for social-structural effects. Based on these results, they find little support for a gender inequality/female homicide connection.

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A considerable amount of research has been devoted to determining structural correlates of homicide across places in the United States. However, recent research has found that general correlates may not hold when homicide rates are disaggregated into analysis of specific groups. Adopting a public health approach, we explore the possibility that male and female rates of homicide victimization may show differential patterns of association with selected social-structural risk factors across a sample of U.S. central cities. The results show that both male and female homicide victimization is related to a general set of factors derived from the theoretical framework of social disorganization. At the same time, it is found that these factors are better predictors of male than female homicides. Suggestions are made for research to discern additional factors, perhaps distinct from those of men, related to the rather considerable variation in the prevalence of female homicide across communities in the United States.