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Response to “How Exhaustive Are Reviews in Research Review Articles?”

In response to Horacio Rivera and Maria G. Domı́nguez’s comments, we first apologize with regard to not having cited Rivera’s article describing a patient with an isodicentric X [Rivera et al., 1987]. Having been in that position before, the authors realize that not all reviews are comprehensive, as Rivera and Dominguez correctly assert. We agree that when an article carries a title of ‘‘reviewof the literature,’’ this implies that the authors have exhausted all means to review all published articles, including articles in all languages. We intentionally expressed our desire not to claim a ‘‘review’’ of the literature byusing the term ‘‘summary of literature’’ in the title [Tsai et al., 2006]. A literature review can highlight new findings in the reported case(s), and leads to new hypotheses, or alternatively, can verify the hypothesis that a previous author suggested based upon a case report(s). We feel we reviewed a sufficient number of cases in the article to match with our statements and hypotheses. We respect authors who publish in non-English medical journals.Havingbeen apast Associate Editor of this Journal (JJ), I can say, with all due respect, that I have spent hours improving the English of foreign authors to allow their articles to be published in this Journal. I can also say that this traditionally has been a goal of the Journal. In response to the questions regarding mosaic patients, we intentionally separated out mosaicism because the phenotype is subject to the distribution and percentage of mosaicism in different tissues and cell types. Because of this, a reviewer and the editor suggested separating the two tables we developed. Table II, illustrates some examples of mosaic cases and Table II in fact demonstrates the variable presentation associated with mosaicism for an isodicentric X chromosome. Because the paper by Yu et al. [1980] included mosaic and non-mosaic cases, we quoted his article as an example, but did not attempt to ascertain all mosaic cases because that was outside the focus of our article. As to the origin of the isodicentric X chromosome, we made two assumptions. First, since the father is color blind, and the daughter is as well, we assume his chromosome is the active one in the daughter, and that the observed nonrandom inactivation is of the mother’s chromosome, which contains 2 androgen receptor alleles. This interpretation is consistent with the observed preferential inactivation of abnormal X chromosomes in females. Second, we assume that two (inactive) of the three distinct androgen receptor alleles in the patient are of maternal origin, indicating that this is not a homozygous isodicentric X chromosome composed of two identical chromatids, or we would have observed only 2 alleles in the patient. We can only confirm these findings by obtaining parental samples and running other markers, so we currently provide these interpretations based upon the assumptions above. For the dicentric to have arisen from the same (maternal) chromosome, as suggested by Rivera and Dominguez, unequal meiotic crossing over would have taken place, with androgen receptor heterozygous duplication on the affected dicentric, and deletion on the other X chromosome. We appreciate the opportunity to clarify the points brought up by the thoughtful comments of Rivera and Dominguez [2007].