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Hum. Reprod. Advance Access published online on August 17, 2006
Human Reproduction, 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
Received March 1, 2006
Revised May 23, 2006
Accepted July 5, 2006

A Case Report

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

K. Moradkhani 1, J. Puechberty 2, S. Bhatt 3, J. Lespinasse 4, P. Vago 5, G. Lefort 6, P. Sarda 6, S. Hamamah 7, and F. Pellestor 8 *

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

* To whom correspondence should be addressed.
F. Pellestor, E-mail: franck.pellestor{at}igh.cnrs.fr


  Abstract

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.

Keywords: FISH/meiotic segregation/Robertsonian translocation/sperm.
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