G Collodel1, I Cosci, A N Pascarelli, E Moretti. 1. Department of General Surgery, Biology Section, Interdepartmental Centre for Research and Therapy of Male Infertility, University of Siena, Policlinico S. Maria alle Scotte, 53100, Siena, Italy.
Abstract
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.
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.
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