Chromosomal Aberrations and Aneuploidies of Spermatozoa

Abstract

Chromosomal abnormalities are relevant causes of human infertility, affecting 2 -14 % of infertile males. Patients with seminal anomalies could be affected by improper meiotic recombination and increased sperm chromosome aneuploidy. Since the transmission of a haploid chromosomal asset is fundamental for embryo vitality and development, the study of sperm chromosomes has become fundamental because intracytoplasmic sperm injection allows fertilization in cases of severe male infertility.In this chapter we summarize the data on the incidence of sperm aneuploidy, detected by fluorescence in situ hybridization (FISH), in infertile men with normal or abnormal karyotype. The possibility of reducing sperm chromosomal imbalance is also reported.Among control males, the lowest aneuploidy rate was detected (range: 0.09 -0.14 % for autosomes; 0.04 -0.10 % for gonosomes). In infertile patients with normal karyotype, the severity of semen alteration is correlated with the frequency of aneuploidy, particularly for X and Y chromosomes. Among patients with abnormal karyotype, 47,XXY and 47,XYY carriers showed a high variability of sperm aneuploidy both for gonosomes and autosomes. In Robertsonian translocation carriers, the increase in aneuploidy rate was particularly evident for total sex disomy, and resulted mainly from interchromosomal effect (ICE). In reciprocal translocation carriers, a high percentage of unbalanced sperm (approximately 50 %) was detected, perhaps mostly related to ICE.Sperm chromosomal constitution could be analyzed to obtain more accurate information about the causes of male infertility. It would be worthwhile to evaluate the benefits of a therapy with recombinant Follicle Stimulating Hormone (rFSH) on sperm chromosome segregation in selected infertile males.

Meiotic pairing and gene expression disturbance in germ cells from an infertile boar with a balanced reciprocal autosome-autosome translocation

“…As classically carried out in human studies (Anton et al 2011; Douet-Guilbert et al 2005; Machev et al 2005; Piomboni et al 2014; Shi and Martin 2001), ICE occurrence was investigated in chromosomes of different size and structure (SSC13 and SSC18, respectively, the largest and smallest acrocentrics, as well as the sex chromosomes). As in the study by Bonnet-Garnier et al (2009) (investigation of ICE for two reciprocal translocations in the pig species), no ICE could be detected for any of the chromosomes tested.…”

PARP3 is a promoter of chromosomal rearrangements and limits G4 DNA

“…Chromosomal rearrangements, including translocations, are essential events in the pathogenesis of malignant and nonmalignant disorders123. Both germline defects in DNA repair and certain clastogens increase the risk for oncogenic rearrangements that drive tumour progression and therapeutic resistance45.…”

Investigation of sperm telomere length as a potential marker of paternal genome integrity and semen quality

“…An elevated frequency of sperm chromosome abnormality is well known to be related to infertility in some men (Piomboni et al, 2014;Ryu et al, 2001). Progressively higher levels of aneuploidy were seen with declining semen quality, as assessed based upon traditional parameters (e.g.…”