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Hum. Reprod. Advance Access published online on October 24, 2006
Human Reproduction, 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
Received May 31, 2006
Revised August 3, 2006
Accepted August 8, 2006

A Case Report

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

A. Perrin 1, N. Douet-Guilbert 2, B. Laudier 3, M.L. Couet 4, F. Guérif 4, D. Royère 4, M.J. Le Bris 5, M. De Braekeleer 2 *, and F. Morel 2

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

* To whom correspondence should be addressed.
M. De Braekeleer, E-mail: marc.debraekeleer{at}univ-brest.fr


  Abstract

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.

Keywords: meiotic segregation/intra-individual variation/fluorescence in situ hybridization/chromosomal translocation.
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