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Human Reproduction, Vol. 16, No. 6, 1155-1164, June 2001
© 2001 European Society of Human Reproduction and Embryology

Study of the occurrence of interchromosomal effect in spermatozoa of chromosomal rearrangement carriers by fluorescence in-situ hybridization and primed in-situ labelling techniques

Franck Pellestor1,3, Isabelle Imbert1, Brigitte Andréo1 and Geneviève Lefort2

1 CNRS-UPR 1142, F-34396 Montpellier and 2 Cytogenetics Laboratory, C.H.U. Arnaud de Villeneuve, F-34033 Montpellier, France

The possibility that a chromosomal rearrangement might disturb the meiotic behaviour of chromosomes not involved in the rearrangement and favour non-disjunction is a controversial issue in human cytogenetics. Using two-colour fluorescence in-situ hybridization and primed in-situ labelling techniques, we have investigated the segregation pattern of 10 chromosomes (chromosomes 1, 4, 9, 13, 15, 16, 20, 21, X and Y) in spermatozoa from nine carriers of balanced structural rearrangements and three normal men. The patients were divided into two groups according to their semen parameters. In rearrangement carriers and normal subjects, sex chromosomes and chromosome 21 displayed a higher rate of disomy than the other chromosomes. No evidence for the occurrence of interchromosomal effect was found in the spermatozoa of fertile rearrangement carriers, but significant variations were observed for all chromosomes tested in the group of infertile translocation carriers, suggesting a direct correlation between poor quality spermatozoa and increased aneuploidy rate in this group. In fertile carriers of chromosomal rearrangements, the occurrence of non-disjunction of chromosomes not involved in the rearrangement might therefore be considered as fortuitous, whereas in infertile carriers, the risk for interchromosomal effect appears to be real and should be taken into consideration in the genetic counselling of infertile couples with a male partner carrying a chromosomal rearrangement.

Key words: FISH/interchromosomal effect/PRINS/rearrangements/spermatozoa

3 To whom correspondence should be addressed at: CNRS-UPR 1142, IGH, 141, rue de la Cardonille, F-34396 Montpellier cédex 5, France. E-mail: Franck.Pellestor{at}igh.cnrs.fr


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