Linear increase of diploidy in human sperm with age: A four-colour FISH study

Mercè Bosch, Osvaldo Rajmil, Olga Martínez-Pasarell, Josep Egozcue, Cristina Templado

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45 Citations (Scopus)


The aim of this study was to determine if donor age is associated with an increased incidence of diploidy and of disomy for the sex chromosomes and for chromosomes 6 and 21. We used simultaneous fluorescence in situ hybridisation (FISH) for chromosomes 6, 21, X and Y in sperm from 18 healthy donors, aged 24-74 years (mean 48.8 years). A total of 194 024 sperm were analysed, with a minimum of 10 000 sperm scored for each donor. Our results indicate a significant increase of the level of diploidy (P=0.002), and a marginal significance of total sex chromosome disomy (P=0.055) with age. No increase was observed for disomies XX, YY, XY, 21 or 6. The percentages of increase for disomy and for diploidy ranged from 0.3 to 17% for each 10-year period. Chromosomes 6 and 21 did not segregate preferentially with the X or Y chromosomes. Our findings show a linear trend association between age and diploidy in human males.
Original languageEnglish
Pages (from-to)533-538
JournalEuropean Journal of Human Genetics
Publication statusPublished - 27 Aug 2001


  • Aneuploidy
  • FISH
  • Paternal age
  • Sex ratio
  • Spermatozoa


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