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

Hum Reprod. 2005 Mar;20(3):683-8. doi: 10.1093/humrep/deh654. Epub 2005 Feb 2.


Background: Reciprocal translocations 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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 10
  • Chromosomes, Human, Pair 13
  • Chromosomes, Human, Pair 14
  • Chromosomes, Human, Pair 20
  • Fertility
  • Heterozygote
  • Humans
  • Infertility, Male / genetics
  • Infertility, Male / physiopathology*
  • Male
  • Meiosis*
  • Oligospermia / genetics
  • Oligospermia / physiopathology
  • Spermatogenesis / genetics*
  • Translocation, Genetic*