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Hum. Reprod. Advance Access originally published online on August 17, 2006
Human Reproduction 2006 21(12):3193-3198; doi:10.1093/humrep/del314
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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

Rare Robertsonian translocations and meiotic behaviour: sperm FISH analysis of t(13;15) and t(14;15) translocations: A Case Report

K. Moradkhani1,2,3, J. Puechberty1,2, S. Bhatt1, J. Lespinasse4, P. Vago5, G. Lefort2, P. Sarda2, S. Hamamah6 and F. Pellestor1,7

1 Institute of Human Genetics, CNRS 2 Department of Medical Genetics, CHU Montpellier, France 3 Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modarres University, Tehran, Iran 4 Laboratory of Cytogenetics, CHU Chambery 5 Laboratory of Cytogenetics, CHU Clermont-Ferrand and 6 Laboratory of Biology of the Reproduction, CHU Montpellier, France

7 To whom correspondence should be addressed at: CNRS UPR 1142, Institute of Human Genetics, 141 Rue de la Cardonille, F-34396 Montpellier Cedex 5, France. E-mail: franck.pellestor{at}igh.cnrs.fr

t(13;15) and t(14;15) are two rare Robertsonian translocations. Meiotic segregation was studied in four males heterozygous for the rare Robertsonian translocations t(13;15) and t(14;15). Both locus-specific probes (LSPs) and whole chromosome painting (WCP) probes, specific to chromosomes 13, 14 and 15, were used in this study. The number of spermatozoa scored for each carrier ranged from 891 to 5000. The frequencies of normal and balanced sperm resulting from the alternate mode of segregation ranged from 77.6 to 92.8%, confirming the prevalence of alternate segregation over other segregation modes in all Robertsonian translocations. The incidences of unbalanced complements ranged from 6.7 to 20.4%, with a significant excess of disomy rates over the complementary frequencies of nullisomy. This variability might reflect differences in the location of breakpoints in translocated chromosomes, leading to the variable production of unbalanced gametes and the variable alterations of semen parameters in Robertsonian translocation carriers.

Key words: FISH/meiotic segregation/Robertsonian translocation/sperm


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