Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age

Mercè Bosch, Osvaldo Rajmil, Josep Egozcue, Cristina Templado

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A simultaneous four-colour fluorescence in situ hybridisation (FISH) assay was used in human sperm in order to search for a paternal age effect on: (1) the incidence of structural aberrations and aneuploidy of chromosome 9, and (2) the sex ratio in both normal spermatozoa and spermatozoa with a numerical or structural abnormality of chromosome 9. The sperm samples were collected from 18 healthy donors, aged 24-74 years (mean 48.8 years old). Specific probes for the subtelomeric 9q region (9qter), centromeric regions of chromosomes 6 and 9, and the satellite III region of the Y chromosome were used for FISH analysis. A total of 190 117 sperms were evaluated with a minimum of 10 000 sperm scored from each donor. A significant linear increase in the overall level of duplications and deletions for the centromeric and subtelomeric regions of chromosome 9 (P≤0.002), chromosome 9 disomy (P<0.0001) as well as diploidy (P<0.0001) was detected in relation to age. The percentage of increase for each 10-year period was 29% for chromosome 9 disomy, 18.8% for diploidy, and ranged from 14.6 to 28% for structural aberrations. Our results indicate a linear increase in structural aberrations and disomy for chromosome 9 in sperm with respect to age.
Original languageEnglish
Pages (from-to)754-759
JournalEuropean Journal of Human Genetics
Publication statusPublished - 1 Oct 2003


  • Aneuploidy
  • Chromosome 9
  • Diploidy
  • FISH
  • Paternal age
  • Sex ratio
  • Spermatozoa
  • Structural aberrations


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