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Hum. Reprod. Advance Access originally published online on August 6, 2004
Human Reproduction 2004 19(10):2227-2230; doi:10.1093/humrep/deh439
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Human Reproduction vol. 19 no. 10 © European Society of Human Reproduction and Embryology 2004; all rights reserved

Lack of intraindividual variation of unbalanced spermatozoa frequencies from a 46,XY,t(9;22)(q21;q11.2) carrier: Case report

F. Morel1,2, N. Douet-Guilbert1,2, M.-J. Le Bris2, A. Herry1,2, C. Marchetti3, V. Lefebvre3, B. Delobel4, V. Amice2, J. Amice1,2 and M. De Braekeleer1,2,5

1 Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, 2 Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, 3 Service de Biologie de la Reproduction, CHRU Lille and 4 Centre de Génétique Chromosomique, Hôpital Saint Antoine, Lille, 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. Email: marc.debraekeleer{at}univ-brest.fr

The meiotic segregation pattern of 83 men carrying a balanced reciprocal translocation between two autosomes has already been published. Nevertheless, the question of intraindividual variations has not been addressed yet. A 32-year-old patient was found to be a carrier of a t(9;22)(q21;q11.2) during the investigations for a couple with infertility for 3 years. Two sperm samples were obtained at more than 3 months interval. Both sperm samples were analyzed in triple FISH with the D9Z1 and LSI BCR/ABL ES translocation probes. The frequency of gametes exhibiting a chromosomal imbalance was 45.32% and 42.1% in samples 1 and 2, respectively, with the unbalanced spermatozoa resulting from adjacent 1, adjacent 2, and 3:1 segregation in decreasing frequencies. No statistically significant difference was found between both segregation profiles. Four studies have analyzed the meiotic segregation pattern of translocations within families; they found similar profiles of meiotic segregation in each family, but not between families. This suggests, along with our results, that meiotic segregation is not a random process. More studies on intraindividual variations are necessary to allow a better understanding of the meiotic behaviour of chromosomal rearrangements and the practical interest of studies of this kind.

Key words: FISH/male infertility/meiotic segregation/reciprocal translocation/spermatozoa


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