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Hum. Reprod. Advance Access originally published online on October 24, 2006
Human Reproduction 2007 22(3):729-732; doi:10.1093/humrep/del420
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Meiotic segregation in spermatozoa of a 45,XY,-14,der(18)t(14;18)(q11;p11.3) translocation carrier: A Case Report

A. Perrin1, N. Douet-Guilbert1,2, B. Laudier3, M.L. Couet4, F. Guérif4, D. Royère4, M.J. Le Bris2, M. De Braekeleer1,2,5 and F. Morel1,2

1 Laboratoire d’Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale 2 Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest 3 Service de Génétique and 4 CECOS, Biologie de la Reproduction, CHU Bretonneau, Tours, France

5 To whom correspondence should be addressed at: Laboratoire de Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, 22, Avenue Camille Desmoulins, CS 93837, F-29238 Brest Cedex 3, France. E-mail: marc.debraekeleer{at}univ-brest.fr

A 35-year-old male was found to have a 45,XY,-14,der(18)t(14;18)(q11;p11.3) karyotype during the investigations for a couple with infertility for 8 years. Two sperm samples were obtained and analysed in triple fluorescence in situ hybridization (FISH) with the D18Z1 and LSI IGH/BCL2 probes. The frequency of gametes exhibiting a normal or balanced chromosomal equipment was 87.26 and 90.97% in samples 1 and 2, respectively. No statistically significant difference was found between the results of meiotic segregation of both samples. These proportions are close to those observed among Robertsonian translocation carriers. They can probably be explained by the formation of trivalent in cis configuration during meiosis I between the derivative chromosome and the normal chromosomes 14 and 18, as in Robertsonian translocation carriers. These results suggest that the configuration adopted at pachytene strongly determines the segregation mode that will be preferentially followed during anaphase I.

Key words: meiotic segregation/intra-individual variation/fluorescence in situ hybridization/chromosomal translocation

Submitted on May 31, 2006; resubmitted on August 3, 2006; accepted on August 8, 2006.


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