title: The association between male infertility and sperm disomy: evidence for variation in disomy levels among individuals and a correlation between particular semen parameters and disomy of specific chromosome pairs.
abstract: BACKGROUND
  The association between infertility and sperm disomy is well documented. Results vary but most report that men with severely compromised semen parameters have a significantly elevated proportion of disomic sperm. The relationship between individual semen parameters and segregation of specific chromosome pairs is however less well reported as is the variation of disomy levels in individual men.
  
  
  METHODS
  In order to address these questions the technique of fluorescent in-situ hybridisation (FISH) was utilised to determine the disomy levels of chromosomes X, Y and 21 in 43 sperm samples from 19 infertile males. The results generated from this study were analysed using logistic regression.
  
  
  RESULTS
  In this study we compared levels of sperm concentration, motility and morphology with levels of sperm disomy for chromosome 21 and the sex chromosomes. Our results suggest that there is considerable variation in disomy levels for certain men. They also suggest that oligozoospermic males have significantly elevated levels of sex chromosome disomy but not disomy 21; they suggest that severe asthenozoospermic males have significantly elevated levels of disomy 21 but not sex chromosome disomy. Surprisingly, severe teratozoopsermic males appeared to have significantly lower levels of sperm disomy for both the sex chromosomes and chromosome 21.
  
  
  CONCLUSIONS
  We suggest that the association between sex chromosome disomy and oligozoospermia may be due to reduced recombination in the XY pairing region and discuss the relevance of our findings for the correlations between sperm disomy and sperm motility and morphology.
authors.affiliation: Cell and Chromosome Biology Group, Department of Biological Sciences, Brunel University, Uxbridge, UK. helen.tempest@brunel.ac.uk <helen.tempest@brunel.ac.uk>
authors.forename: Helen G
authors.initials: HG
authors.lastname: Tempest
authors.forename: Sheryl T
authors.initials: ST
authors.lastname: Homa
authors.forename: Maria
authors.initials: M
authors.lastname: Dalakiouridou
authors.forename: Dimitra
authors.initials: D
authors.lastname: Christopikou
authors.forename: David
authors.initials: D
authors.lastname: Wright
authors.forename: Xiao P
authors.initials: XP
authors.lastname: Zhai
authors.forename: Darren K
authors.initials: DK
authors.lastname: Griffin
mesh_terms: D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D012044:Regression Analysis; D012661:Semen / Q000166:cytology; D013076:Sperm Count; D013094:Spermatozoa / Q000648:ultrastructure; D024182:Uniparental Disomy / Q000235:genetics*