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The most common chromosomal abnormalities associated with autism are 15q11-q13 duplications. Maternally derived or inherited duplications of 15q pose a substantial risk for an autism phenotype, while paternally derived duplications may be incompletely penetrant or result in other neurodevelopmental problems. Therefore, the determination of maternal versus paternal origin of this duplication is important for early intervention therapies and for appropriate genetic counseling to the families. We adapted a previous single-reaction tube assay (high-resolution melting curve analysis) to determine the parent of origin of 15q duplications in 28 interstitial duplication 15q samples, one family and two isodicentric subjects. Our method distinguished parent origin in 92% of the independent samples as well as in the familial inherited duplication and in the two isodicentric samples. This method accurately determines parental origin of the duplicated segment and measures the dosage of these alleles in the sample. In addition, it can be performed on samples where parental DNA is not available for microsatellite analysis. The development of this single-tube assay will make it easier for genetic testing laboratories to provide parent-of-origin information and will provide important information to clinical geneticists about autism risk in these individuals.

The aim of this study was to investigate the attitudes toward cancer predictive genetic testing in a group of non-high-risk women and men and to analyze the factors that may influence their intention to use these tests. We studied a sample of 859 outpatient women and men attending the four tertiary care hospitals of the ISSSTE (Institute of Social Security and Services for Government Employees) in Mexico City. Subjects between the ages of 30 and 74 years with no present or past history of cancer were asked to answer a questionnaire through face-to-face interview. Two different questionnaires were designed, one for women and the other for men, regarding genetic testing of a high-risk gene for breast and prostate cancer, respectively. Descriptive statistics and univariate comparisons were carried out using chi-square test, Wilcoxon's signed rank test, and Friedman test. Multivariate analysis was performed using logistic regression technique. Results showed that the majority of women attended clinics for regular check-ups and for performing screening tests to detect breast cancer, and men did not follow this pattern regarding prostate cancer. Women were more motivated to get genetic testing, more aware about its benefits, and more concerned about having cancer than men.