This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Kamischke, A. Articles by Nieschlag, E. Search for Related Content PubMed Articles by Kamischke, A. Articles by Nieschlag, E.

Perspectives and Editorials: Letter to the Editor

Response to Molecular Barr Bodies: Methylation-Specific PCR of the Human X-Linked Gene FMR-1 for Diagnosis of Klinefelter Syndrome

We appreciate the comments made concerning our article, "Clinical and Diagnostic Features of Patients With Suspected Klinefelter Syndrome." As we repeatedly stated in our paper, we use the Barr body analysis only as a quick screening test on a routine clinical basis. We are aware that the Barr body analysis, at least in our hands, has a sensitivity of 82% and specificity of 95% for diagnosis of Klinefelter syndrome (see abstract, results, and discussion) and that for definite diagnosis, karyotype analysis is mandatory.

However, comments from Pena and Sturzeneker deal mainly with the description of a methylation-specific PCR (MSP test). Although on first sight the results appear interesting and applicable to the diagnosis of Klinefelter syndrome, the method has never been published for the diagnosis of Klinefelter syndrome in a peer-reviewed journal. The details of the methodology and description of a rather small number of Klinefelter syndrome patients given unsystematically in Pena and Sturzeneker's letter are not adequate for unequivocal statements on the suitability of the method. The statement that the method "should be sensitive enough to diagnose all mosaic Klinefelter patients" remains speculative as no karyotype of the 15 previously diagnosed Klinefelter patients is provided. In addition, the superiority of this method to karyotyping remains to be elucidated systematically and it is questionable whether a method that takes considerably longer ("can be done in less than 48 hours") can replace the Barr body screenings, which can be performed within 1 hour.

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Kamischke, A. Articles by Nieschlag, E. Search for Related Content PubMed Articles by Kamischke, A. Articles by Nieschlag, E.