In our recent report of a patient with 3p deletion syndrome and associated review of syndromic distal 3p deletions [Fernandez et al., 2008], we focused on the mounting evidence for a minimal critical region associated with the phenotype that includes the gene CNTN4. In the literature review, we cited only those reports that included sufficient mapping data to address this question. The references that are of concern to Dr. Rivera were excluded because they did not meet this criterion. None of these reports provided sufficient information to determine deletion boundaries. Dr. Rivera asserts that these exclusions skew our interpretation of the extant data because they all involve cases of deletions that did not show the classical phenotype. Given the absence of mapping data, we believe these reports have no bearing on our conclusions. Moreover, our focus was explicitly on the molecular definition of a minimal critical region in individuals showing the hallmarks of the syndrome. We made no effort to define the entire range of phenotypic expression of deletions involving the short arm of chromosome 3.
Finally, we appreciate Dr. Rivera's concern about properly assigning authorship in scientific studies. Our work reflects a comprehensive multidisciplinary research evaluation of a patient (including neurology, cardiology, otolaryngology, nephrology, radiology, laboratory medicine, and clinical genetics) along with standard cytogenetic as well as molecular genetic studies and an extensive literature review. Our author list reflects these varied, substantive intellectual contributions to the work.