Sex chromosome aneuploidies in sperm of 47,XYY men

The sex chromosomal equipment in 26,675 sperm of 47,XYY males was analyzed. A total of 5.78% of the nuclei exhibited sex chromosome hyperhaploidy. Six studies have analyzed the sperm of 10 XYY patients and, although these stu dies indicated some degree of elimination of the extra Y chromosome during spermatogenesis, a certain percentage of XYY germinal cells may also be abl e to achieve meiosis and produce sperm with gonosomal disomies. All these s tudies show an increased incidence of gonosomal aneuploidies in sperm, but there are significant discrepancies concerning the extent of these abnormal ities. The global frequencies of sperm with an abnormal number of sex chrom osomes ranged from 0.578 to 13.91%, depending on the patients. There are se veral explanations for these discrepancies: differences attributed to fluor escence in situ hybridization methodology, the use of dual or multicolor FI SH, recruitment, interindividual variations, and intraindividual variations . This study reports an additional series obtained from another XYY individ ual and compares and discusses the data on gonosomal hyperhaploidies in spe rm of 47 XYY males using in situ hybridization analyses.