Hum. Reprod. Advance Access originally published online on January 26, 2006
Human Reproduction 2006 21(5):1166-1171; doi:10.1093/humrep/dei477
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Meiotic segregation of rare Robertsonian translocations: sperm analysis of three t(14q;22q) cases
1 Institute of Human Genetics, CNRS, 2 Department of Medical Genetics, CHU Montpellier, France, 3 Department of Medical Genetics, School of Medical Sciences, Tarbiat Modarres University, Tehran, Iran, 4 Laboratory of Cytogenetics, 5 Laboratory of Biology of the Development and the Reproduction, 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
BACKGROUND: The t(14;22) remains one of the rare Robertsonian translocations observed in human, with an occurrence estimated at 1.2%. Three cases of rare Robertsonian translocation t(14;22) were investigated for meiotic segregation in sperm samples from male carriers using the fluorescent in situ hybridization (FISH) procedure. The three carriers included two men with an abnormal semen analysis and one with normal semen parameters. METHODS: Both locus-specific probes and whole-chromosome painting probes, specific for chromosomes 14 and 22, were used in this study. The number of spermatozoa scored for each probe set ranged from 3279 to 10 024. RESULTS: In the three carriers, similar frequencies, ranging from 78.53 to 81.76%, were found for normal and balanced spermatozoa resulting from alternate segregation. The total proportion of unbalanced spermatozoa resulting from adjacent modes of segregation ranged from 17.59 to 20.94%. CONCLUSION: This finding confirmed the predominance of alternate segregation over other segregation types in all Robertsonian translocations and indicates a higher production of imbalances in the t(14;22) than in most of the Robertsonian translocations previously analysed. This could be related to the variable location of breakpoints in Robertsonian translocations. This breakpoint diversity could also play a role in the differences in reproductive status observed in male carriers of Robertsonian translocations.
Key words: FISH/imbalance/meiotic segregation/Robertsonian translocation/sperm
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