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Mol. Hum. Reprod. Advance Access originally published online on March 8, 2006
Molecular Human Reproduction 2006 12(3):209-215; 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

Chromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers

Gonul Ogur1, Elvire Van Assche1,4, Walter Vegetti2, Greta Verheyen3, Herman Tournaye3, Maryse Bonduelle1, André Van Steirteghem3 and Inge Liebaers1

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

4 To whom correspondence should be addressed at: Center for Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium. E-mail: elvire.van.assche@uza.be

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.

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


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