AI Article Synopsis
- This study investigates the meiotic segregation of sperm in men with sex chromosome mosaicism, specifically those with a 45,X cell line.
- Using fluorescence in situ hybridization (FISH) and DNA fragmentation tests, researchers found higher rates of abnormal sperm (XY disomy) in two out of three patients.
- However, the rates of DNA fragmentation in sperm were similar to those in a control group, and existing literature on this topic is limited, complicating comparisons across cases.
Article Abstract
Meiotic segregation of mosaic males with a 45,X cell line has been little examined. In this study, we evaluated the risk of aneuploid gametes using fluorescence in situ hybridization (FISH) and DNA fragmentation in ejaculated spermatozoa of three men with sex chromosome mosaicism including a 45,X cell line. Triple- and dual-color FISH were performed. Sperm DNA fragmentation was detected using the TUNEL assay. A significantly increased frequency of XY disomic spermatozoa was observed for patients (P)1 and P2. A significant increase in diploidy and autosomal aneuploidy was found in P2 and P3, respectively. The rate of DNA fragmentation was not different from that observed in a control group. Data from the literature are scarce (only 3 cases reported), making comparison of the present data difficult, especially as the frequencies of the cell lines comprising the mosaicism differed between patients. Furthermore, the proportion of the different cell lines can differ from one tissue to another in the same patient. Whether the relative levels of the several cell lines present in the mosaicism can influence the rate of aneuploid spermatozoa remains unknown.
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| http://dx.doi.org/10.3109/14647273.2014.988663 | DOI Listing |
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