Sperm ultrastructure and 18, X, Y aneuploidies in a man with a 46 XY, 47 XY + 18 mosaic karyotype: case report.

摘要

PURPOSE: To describe sperm morphology and meiotic segregation in the case of a man with a 46 XY/ 47 XY + 18 mosaic karyotype. MATERIALS AND METHODS: A 25-year-old man came to our Centre for semen analysis. Morphological sperm evaluation was performed by light and electron microscopy; meiotic segregation was examined by fluorescence in situ hybridisation (FISH) technique using probes for chromosomes 18, X and Y. PCR was carried out on DNA from peripheral blood lymphocytes to analyze Y microdeletions. RESULTS: Mathematically elaborated transmission electron microscopy data highlighted a low number of sperm devoid of ultrastructural defects, and the presence of characteristics of apoptosis and immaturity. FISH showed the presence of aneuploidies of chromosome 18 and sex chromosomes. CONCLUSIONS: In this case of mosaicism morphological and meiotic spermatogenetic impairment is shown, as well as structural chromosomal alterations.