Chromosome segregation and chromatin integrity in spermatozoa from a t(2;8)(p24;p21)mat carrier: A case-report

Background: Chromosome rearrangements can produce genomic imbalance in gametes which causes a drastic decrease in fertility. Several studies have described the relationship between high levels of DNA damage and chromosomal alterations in the spermatozoa of infertile or subfertile males. However, the nature of this relation is poorly understood. In this study, the meiotic segregation pattern and chromatin integrity were analyzed in the ejaculated spermatozoa of a 46, XY, t(2;8)(p24;p21)mat carrier with normozoospermia and a lack of conception.
Case: A 39-year-old infertile man with a 46, XY, t(2;8)(p24;p21)mat inherited from his mother, was studied. The wife of the proband (30 yrs old) had a normal karyotype and no reproductive problems. The meiotic segregation pattern and aneuploidy of chromosome-8 and chromosome-2 were analyzed by FISH. Sperm DNA damage was evaluated by the Sperm Dispersion Chromatin, alkaline comet assay and DNA breaking detection. Five healthy male donors were included as controls. The frequency of genetically unbalanced spermatozoa was 61.6%. Analysis of the aneuploidy of chromosome-8 and chromosome-Y revealed approximately three and 24 fold increased level respectively in comparison with that of the control group.
Conclusion: We suggest that the accumulation of genetically unbalanced spermatozoa, and increased sperm aneuploidy level is related to male infertility. Interestingly, the case described here has a high level of sperm chromosomal imbalance appears to be linked to sperm DNA fragmentation status. This information could be useful in assisted reproductive techniques.

Keywords
Infertility; Male; Spermatozoa; DNA damage; Chromosome segregation; Translocations; Genetic.