Meiotic studies in two human reciprocal translocations and their association with spermatogenic failure

M. Oliver-Bonet, J. Benet, F. Sun, J. Navarro, C. Abad, T. Liehr, H. Starke, C. Greene, E. Ko, R. H. Martin

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61 Citations (Scopus)

Abstract

Background: Reciprocal trauslocations are often associated with infertility in male carriers. However, some carriers present normal semen profiles and are identified because of repetitive pregnancy failures. Methods: Here, we report two different cases of reciprocal translocations. The first patient carried a t(10;14) and was normozoospermic. The second patient carried a t(13;20) and was azoospermic. Synaptonemal complexes from both carriers were analysed using immunocytogenetic techniques and multi-centromere fluorescent in situ hybridization (cenM-FISH). Results: Associations between the quadrivalent and the sex body or other autosomes were seen only in the t(13;20) carrier. Heterosynapsis was observed only in the t(10;14) carrier. Synaptic pairing abnormalities were seen in 71% of the spreads in the t(13;20) carrier and 30% of the spreads in the t(10;14) carrier. Recombination frequency was decreased in the t(13;20) carrier, but not in the t(10;14) carrier. Conclusions: By comparing these two different translocation carriers with different fertility outcomes, we discuss the possible mechanisms by which translocations might cause the spermatogenesis process to fail. © The Author 2005. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved.
Original languageEnglish
Pages (from-to)683-688
JournalHuman Reproduction
Volume20
DOIs
Publication statusPublished - 1 Jan 2005

Keywords

  • Heterosynapsis
  • Meiosis
  • Meiotic checkpoints
  • Reciprocal translocation
  • Sex body

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