Numerical chromosome abnormalities in spermatozoa of fertile and infertile men detected by fluorescence in situ hybridization

Abstract

Fluorescence in situ hybridization (FISH) with single-color chromosome-specific probes was used to study the rates of disomy for chromosome 1, 16, X, and Y in sperm of fertile and infertile subjects. Diploidy rates were studied using a two-color cocktail of probes for chromosomes 17 and 18 in the same sperm samples. Two-color methodology was not available at the outset of the study. A total of 450,580 spermatozoa were studied from 21 subjects (9 fertile, 12 infertile). Significant differences were observed in the disomy rates between chromosomes with the highest frequency observed for chromosome 16 (0.17%) and the lowest for the Y chromosome (0.10%). No differences were observed between fertile and infertile subjects for either diploidy or disomy. Total disomy rates for chromosomes 1, 16, X and Y ranged from 0.34% to 0.84% among infertile subjects, and 0.32% to 0.61% among fertile subjects. Our data suggest that generalized aneuploidy in sperm is not a major contributor to unexplained infertility.

Detection of aneuploidy rate for chromosomes X, Y and 8 by fluorescence in-situ hybridization in spermatozoa from patients with severe non-obstructive oligozoospermia

“…Our results are in accordance with the data of many other studies that reported significant negative correlations between sperm concentration and the mean frequency of disomy, especially for the sex chromosomes [6,10,15,21,22]. However, other studies did not show a significant correlation between sex disomy rates and sperm concentration [3,20,23,24]. The disparate results of these studies might be related to their investigation of different types of male infertility: in the majority of cases oligozoospermia was associated with one or more abnormal other parameters.…”

“…The disparate results of these studies might be related to their investigation of different types of male infertility: in the majority of cases oligozoospermia was associated with one or more abnormal other parameters. In addition the classification criteria of individuals appeared to be subjective and no mention was made of the characteristics of the sperm in the study of Miharu et al [3].…”

“…Indeed, severe quantitative impairments of spermatogenesis can be associated with qualitative alterations in the process of meiotic chromosome recombination and segregation, resulting in increased numbers of aneuploïd spermatozoa [2]. Several studies on aneuploidy rate in spermatozoa from infertile men using fluorescence in situ hybridiza-tion (FISH) have been reported [3][4][5][6]. Most of these studies showed increased rates of aneuploïd spermatozoa, especially of the sex chromosomes, in the population of infertile men presenting moderate to severe oligozoospermia compared with the control population [5][6][7][8][9][10][11][12].…”

Detection of aneuploidy in human spermatozoa using fluorescencein situ hybridization (FISH)

“…The disomy rate (0.38%) for chromosome 1 in this study is similar to that (0.41%) in the report of Guttenbach and Schmid (1991), while higher than those in the previous reports (Robbins et aL, 1993;Miharu et al, 1994) (Table 5). The disomy rate (0.39%) for chromosome 17 in this study is comparable to those (0.33% and 0.31%) by Han et al (1992) and by Guttenbach et aL (1994a), while higher than that (0.13%) in the report of Bischoff et al (1994) (Table 5).…”

“…Furthermore, the hamster egg may act as a barrier against some sperm with chromosomal abnormalities. In order to know an effect of infertility status on cytogenetic abnormality of sperm, Miharu et al (1994) studied disomy frequencies both in infertile and fertile populations, and could not find any differences between the two populations. However, Wyrobek et al (1994) did not find any differences in the frequencies of disomic sperm between FISH and karyotype studies using the hamster egg test.…”