Incidence of chromosome 8, 10, X and Y aneuploidies in sperm nucleus of infertile men detected by FISH

We studied the frequency of aneuploidy in sperm nuclei of six infertile men with abnormal semen profile and normal karyotype, using fluorescence in si tu hybridization (FISH) with DNA probes for chromosomes 8, 10, X and Y. The control group consisted of four healthy fertile men with normal karyotype and semen profiles. The purpose of this study was to determine whether ther e are differences between infertile male donors and control donors for: (1) the incidence of sex chromosome aneuploidy, and (2) the number of disomies for chromosomes 8, and 10 cosegregating with chromosomes X and Y. FISH ana lysis showed no significant differences of sex ratios of the sperm nuclei i n and between infertile and control groups. The most significant abnormalit ies in the infertile group were clusters of sperm nuclei bearing XY and XYY . In addition, the incidence of disomic sperm nuclei for chromosomes 8 and 10 consegregating with sex chromosomes was not significantly different bewe en the patient and control groups, nor within them. However, the total freq uency of aneuploid sperm nuclei was significantly different beween the infe rtile group and the control group. We observed a significant excess of sper m nuclei bearing chromosome 10 along with disomy for chromosome Y (10YY). I n conclusion, our results from FISH analysis demonstrate a significantly in creased frequency of aneuploidy for the sex chromosomes in sperm nuclei fro m infertile men. Therefore it may be concluded that infertility is a risk f actor for sex chromosome aneuploidy in sperm nuclei. Copyright (C) 2000 S. Karger AG, Basel.