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Hum. Reprod. Advance Access originally published online on February 2, 2005
Human Reproduction 2005 20(3):683-688; doi:10.1093/humrep/deh654
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Human Reproduction Vol. 20 No. 3 © The Author 2005; all rights reserved

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

M. Oliver-Bonet1,2, J. Benet3, F. Sun1,2, J. Navarro3, C. Abad4, T. Liehr5, H. Starke5, C. Greene6, E. Ko2 and R.H. Martin1,2,7

1 University of Calgary, 6 Department of Obstetrics and Gynecology, Faculty of Medicine, University of Calgary, Calgary T2N 4N1, 2 Department of Genetics, Alberta Children's Hospital, Calgary T2T 5C7, Canada, 3 Unitat de Biologia, Facultat de Medicina, Departament de Biologia Cellular, Fisiologia i d'Immunologia, Universitat Autònoma de Barcelona, Bellaterra 08193, 4 Corporació Sanitària Parc Taulí, 08208, Sabadell, Spain and 5 Institute of Human Genetics and Anthropology, D-07740 Jena, Germany

7 To whom correspondence should be addressed at: Department of Genetics, Alberta Children's Hospital,1820 Richmond Road S.W., Calgary, Alberta, Canada T2T 5C7. Email: rhmartin{at}ucalgary.ca

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.

Key words: heterosynapsis/meiosis/meiotic checkpoints/reciprocal translocation/sex body


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