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Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier  Franck Pellestor, Ph.D., Jacques.

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Presentation on theme: "Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier  Franck Pellestor, Ph.D., Jacques."— Presentation transcript:

1 Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier  Franck Pellestor, Ph.D., Jacques Puechberty, M.D., Anja Weise, Ph.D., Geneviève Lefort, M.D., Tal Anahory, M.D., Thomas Liehr, M.D., Pierre Sarda, M.D.  Fertility and Sterility  Volume 95, Issue 7, Pages 2433.e e22 (June 2011) DOI: /j.fertnstert Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

2 Figure 1 Partial R-banded (RHG) karyotype and whole chromosome probe (WCP) hybridization on metaphases of the patient carrying a complex balanced reciprocal translocation t(5;13;14)(q23;q21;q31). Chromosome 5 is red, chromosome 13 is green, and chromosome 14 is yellow. Fertility and Sterility  , 2433.e e22DOI: ( /j.fertnstert ) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

3 Figure 2 Partial visualization of the in situ labeling of the specific chromosomal bands covering the breakpoints of the t(5;13;14)(q23;q21;q31) complex translocation, by using the region-specific microdissected libraries (MCB probes). The labeling of both normal and derivative chromosomes is illustrated. Fertility and Sterility  , 2433.e e22DOI: ( /j.fertnstert ) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

4 Figure 3 Examples of in situ labeling obtained in sperm nuclei from the t(5;13;14) carrier by use of the MCB specific probes, and the corresponding diagrams of the probe patterns. (A) Sperm nucleus showing three colored spots corresponding to normal chromosome 5 (blue), chromosome 13 (red), and chromosome 14 (green). (B) Unbalanced sperm nucleus with a fluorescent profile corresponding to a 3:3 segregation pattern (13+14+der14). (C) Nucleus displaying a balanced chromosomal pattern with the der(5), der(13), and der(14). Fertility and Sterility  , 2433.e e22DOI: ( /j.fertnstert ) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions


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