Hum. Reprod. Advance Access originally published online on April 21, 2005
Human Reproduction 2005 20(7):1850-1854; doi:10.1093/humrep/deh886
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Sperm segregation analysis of a (13;22) Robertsonian translocation carrier by FISH: a comparison of locus-specific probe and whole chromosome painting
1 Service de Médecine et de Biologie de la Reproduction B, Hôpital Arnaud de Villeneuve, 34295 Montpellier Cedex 5 2 CNRS-UPR 1142, Institut de Génétique Humaine, 141 rue de la Cardonille, F-34396 Montpellier Cedex 5 3 Service de Gynécologie Obstétrique, Hôpital Arnaud de Villeneuve, 34295 Montpellier Cedex 5 4 Service de Génétique Moléculaire et Chromosomique, Hôpital Arnaud de Villeneuve, 34295 Montpellier Cedex 5 and 5 Service de Génétique Clinique, Hôpital Arnaud de Villeneuve, 34295 Montpellier Cedex 5, France
6 To whom correspondence should be addressed. Email: franck.pellestor{at}igh.cnrs.fr
BACKGROUND: The t(13;22) Robertsonian translocation constitutes a rare form of rearrangement between acrocentric human chromosomes. Most of the meiotic segregation studies of human Robertsonian translocations have been performed on common t(13;14) and t(14;21) translocations. Analysis of the chromosomal constitution in sperm of Robertsonian translocation carriers is of great interest for assessing the risk of unbalanced forms and adapting genetic counselling. In the present study, we present the first meiotic segregation study of a t(13;22) Robertsonian translocation in human sperm. METHODS: A total of 11 787 sperm nuclei were scored using two distinct FISH labelling techniques, i.e. the locus-specific probes (LSI) method and the whole chromosome painting (WCP) technique. RESULTS: The frequency of normal or balanced sperm resulting from alternate meiotic segregation was 86%. Incidences of unbalanced complements resulting from adjacent segregation modes were 12.79% and 14.36% in LSI and WCP assays, respectively. No significant excess of nullisomy or disomy for the affected chromosomes was observed. CONCLUSIONS: Similar results in segregation were obtained with the two techniques, demonstrating the efficiency of the two strategies for the direct segregation analysis of Roberstsonian translocations. The results obtained indicated a moderate meiotic production of imbalance. This study shows that the rare Robertsonian translocation (13;22) displays a similar distribution of balanced and unbalanced sperm patterns as the common Robertsonian translocations previously studied. This suggests that the behaviour of acrocentric chromosomes was similar in all cases of centric fusion.
Key words: FISH/meiotic segregation/Robertsonian translocation/sperm
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