Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier
作者： Franck Pellestor , Jacques Puechberty , Anja Weise , Geneviève Lefort , Tal Anahory
DOI: 10.1016/J.FERTNSTERT.2011.01.159
关键词:
摘要: Objective To directly study the meiotic segregation of a complex reciprocal translocation (CCR) as well occurrence an interchromosomal effect. Design In situ sperm fluorescence in hybridization (FISH) analysis. Setting Department Cytogenetics and INSERM research center. Patient(s) A male carrier balanced t(5;13;14)(q23;q21;q31). Intervention(s) Sperm samples from direct FISH analysis on slide preparations. Main Outcome Measure(s) Meiotic pattern determined nuclei estimation incidence unbalanced spermatozoa effect (ICE). Result(s) Only 27% displayed normal or chromosome complement. The rate was 69.4%, including different types 3:3, 4:2, 5:1 segregations. There no evidence for autosomal chromosomes, but gonosomes statistically significant increase disomy rates. Conclusion(s) These results are consistent with formation hexavalent configuration at pachytene stage meiosis high prevalence imbalance production. mechanisms CCRs must be examined regard to these new molecular data genomic rearrangements.
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