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Mol. Hum. Reprod. Advance Access published online on March 8, 2006
Molecular Human Reproduction, doi:10.1093/molehr/gah253
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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 October 16, 2005
Revised November 19, 2005
Accepted November 28, 2005

Article

Chromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers

Gonul Ogur 1, Elvire Van Assche 1 *, Walter Vegetti 2, Greta Verheyen 3, Herman Tournaye 3, Maryse Bonduelle 1, André Van Steirteghem 3, and Inge Liebaers 1

1 Center for Medical Genetics, University Hospital, Dutch-Speaking Free University of Brussels, Laarbeeklaan, Brussels, Belgium
2 First Department of Obstetrics and Gynaecology, University of Milan, Via della Commenda, Milan, Italy
3 Center for Reproductive Medicine, University Hospital, Dutch-Speaking Free University of Brussels, Laarbeeklaan, Brussels, Belgium

* To whom correspondence should be addressed.
Elvire Van Assche, E-mail: elvire.van.assche{at}uza.be


  Abstract

Male carriers of Robertsonian (Rob) translocations can have fertility problems associated with low sperm counts and abnormal sperm morphology. In this study, spermatozoa from 14 Rob translocation carriers, seven der(13;14), two der(13;15), two der(14;15), two der(14;21) and one der(21;22), were tested by fluorescence in-situ hybridization (FISH) for the chromosomes involved, to study meiotic segregation behaviour. It was shown that in each type of Rob translocation, meiotic segregation behaviour is similar, comparable and occurs non-randomly. Most of the spermatozoa results from alternate segregation (range: 76-89.47%). There is, however, still much unbalanced spermatozoa resulting from adjacent segregation mode (range: 10.24-23.41%). These data provide useful information for genetic counselling purposes. Moreover, aneuploidy for chromosomes 13,18, 21, X and Y was studied in five patients and suggested an inter-chromosomal effect.

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