Infertility in human males with autosomal translocations: meiotic study of a 14;22 Robertsonian translocation

Hum Genet. 1990 Dec;86(2):162-6. doi: 10.1007/BF00197698.

Abstract

Pachytene analysis was undertaken in a male patient heterozygous for a 14q22q Robertsonian translocation. The relatively low rate of XY autosome association led us to examine the relationships existing between the chromosomes involved in the translocation, the rate of XY-autosome association and the degree of spermatogenic failure. Cytogenetic investigations in infertile men and the results of the meiotic studies suggest a direct correlation between the frequency of XY-autosome association at pachytene and the degree of spermatogenic failure. Whether associations arise as a consequence or cause of germ cell failure is still not certain.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 14*
  • Chromosomes, Human, Pair 22*
  • Humans
  • Infertility, Male / genetics*
  • Male
  • Meiosis*
  • Spermatozoa / pathology
  • Spermatozoa / ultrastructure
  • Translocation, Genetic*
  • X Chromosome
  • Y Chromosome