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摘要
Objective: To characterize a t(2; 6) by array-based comparative genomic hybridization (array-CGH) in a couple with recurrent miscarriage, to analyze the meiotic segregation of the t(2; 6), and to discuss couple specific care-taking modality before intracytoplasmic sperm injection.
Design: Case report.
Setting: INSERM U613 in Brest, France.
Patient(s): Couple consulting for infertility.
Intervention(s): Array-CGH to characterize a t(2; 6) and fluorescence in situ hybridization (FISH) to analyze the meiotic segregation were performed.
Main Outcome Measure(s): Array-CGH, FISH with a panel of bacterial artificial chromosome clones and commercial probes.
Result(s): Analyses from peripheral blood lymphocytes identified a t(2; 6)(q35;q24) unbalanced reciprocal translocation with microdeletions on the der(2) and the der(6). FISH on spermatozoa found that the frequency of normal (23, X or 23, Y) or "translocation-deletions'' (23, X, der(2), der(6) or 23, Y, der(2), der(6)) spermatozoa was 41.10%.
Conclusion(s): For our 46, XY, t(2; 6)(q35; q24) carrier, more than 50% of the spermatozoa are chromosomally unbalanced. Moreover, FISH does not permit a distinction between normal and "translocation-deletion'' phenotypes. So, in the possibility of preimplantation genetic diagnosis, is it necessary to select the normal embryos to the detriment of those translocation-deletions carriers? The pathogenicity of these microdeletions not been proved. Because the family history was oriented toward a variation of genetic equipment without phenotypic consequences, the couple decided not to make a selection between the normal embryos and the translocation-deletion carrier embryos. (Fertil Steril (R) 2010;93:2075.e3-e6.
- 出版日期2010-4
