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  • Title: Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier.
    Author: Pellestor F, Puechberty J, Weise A, Lefort G, Anahory T, Liehr T, Sarda P.
    Journal: Fertil Steril; 2011 Jun; 95(7):2433.e17-22. PubMed ID: 21367411.
    Abstract:
    OBJECTIVE: To directly study the meiotic segregation of a complex reciprocal translocation (CCR) as well as the occurrence of an interchromosomal effect. DESIGN: In situ sperm fluorescence in situ hybridization (FISH) analysis. SETTING: Department of Cytogenetics and INSERM research center. PATIENT(S): A male carrier of a balanced complex reciprocal translocation t(5;13;14)(q23;q21;q31). INTERVENTION(S): Sperm samples from the carrier and direct FISH analysis on sperm slide preparations. MAIN OUTCOME MEASURE(S): Meiotic segregation pattern determined on sperm nuclei and estimation of the incidence of unbalanced spermatozoa and an interchromosomal effect (ICE). RESULT(S): Only 27% of spermatozoa displayed a normal or balanced chromosome complement. The rate of unbalanced sperm was 69.4%, including different types of 3:3, 4:2, and 5:1 segregations. There was no evidence for the occurrence of an interchromosomal effect in autosomal chromosomes, but the gonosomes displayed a statistically significant increase in disomy rates. CONCLUSION(S): These results are consistent with the formation of a hexavalent configuration at the pachytene stage of meiosis and a high prevalence of imbalance production. The mechanisms of formation of CCRs must be examined with regard to these direct results and new molecular data on the formation of genomic rearrangements.
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