Translocation

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Yong-dal Yoon - One of the best experts on this subject based on the ideXlab platform.

  • Estimation of chromosomal imbalances in preimplantation embryos from preimplantation genetic diagnosis cycles of reciprocal Translocations with or without acrocentric chromosomes
    Fertility and Sterility, 2008
    Co-Authors: In Ok Song, Inn Soo Kang, Yong-dal Yoon
    Abstract:

    Objective To estimate chromosomal imbalances in preimplantation embryos from reciprocal Translocation carriers with or without acrocentric chromosomes (Acro-Ch) 13, 14, 15, 21, and 22 in preimplantation genetic diagnosis (PGD) cycles. Design Fluorescence in situ hybridization was applied to PGD cycles for reciprocal Translocation carriers. Setting University-based centers for reproductive medicine. Patient(s) Ten and 24 patients of reciprocal Translocation with and without Acro-Ch, respectively. Intervention(s) Fluorescence in situ hybridization in biopsied blastomeres. Main Outcome Measure(s) Estimation of meiotic segregation mode in embryos from Translocation carriers. Result(s) The proportion of alternative segregation for normal or balanced chromosome contents in preimplantation embryos from PGD cycles in reciprocal Translocations without Acro-Ch was significantly higher than that with Acro-Ch (26.0% vs. 14.6%). The proportion of interchange trisomy in 3:1 segregation was significantly lower in reciprocal Translocations without Acro-Ch than that with Acro-Ch (4.3% vs. 9.5%). Conclusion(s) This is the first report that the incidence of alternative segregation producing normal or balanced embryos was relatively low in reciprocal Translocations associated with Acro-Ch. Our data may be useful to predict the possibility of normal or balanced embryos and to counsel with reciprocal Translocation carriers for PGD–fluorescence in situ hybridization cycles.

  • Estimation of chromosomal imbalances in preimplantation embryos from preimplantation genetic diagnosis cycles of reciprocal Translocations with or without acrocentric chromosomes
    Fertility and sterility, 2008
    Co-Authors: Chun Kyu Lim, In Ok Song, Inn Soo Kang, Yong-dal Yoon, Jae Won Cho, Jin Hyun Jun
    Abstract:

    Objective To estimate chromosomal imbalances in preimplantation embryos from reciprocal Translocation carriers with or without acrocentric chromosomes (Acro-Ch) 13, 14, 15, 21, and 22 in preimplantation genetic diagnosis (PGD) cycles. Design Fluorescence in situ hybridization was applied to PGD cycles for reciprocal Translocation carriers. Setting University-based centers for reproductive medicine. Patient(s) Ten and 24 patients of reciprocal Translocation with and without Acro-Ch, respectively. Intervention(s) Fluorescence in situ hybridization in biopsied blastomeres. Main Outcome Measure(s) Estimation of meiotic segregation mode in embryos from Translocation carriers. Result(s) The proportion of alternative segregation for normal or balanced chromosome contents in preimplantation embryos from PGD cycles in reciprocal Translocations without Acro-Ch was significantly higher than that with Acro-Ch (26.0% vs. 14.6%). The proportion of interchange trisomy in 3:1 segregation was significantly lower in reciprocal Translocations without Acro-Ch than that with Acro-Ch (4.3% vs. 9.5%). Conclusion(s) This is the first report that the incidence of alternative segregation producing normal or balanced embryos was relatively low in reciprocal Translocations associated with Acro-Ch. Our data may be useful to predict the possibility of normal or balanced embryos and to counsel with reciprocal Translocation carriers for PGD–fluorescence in situ hybridization cycles.

In Ok Song - One of the best experts on this subject based on the ideXlab platform.

  • Estimation of chromosomal imbalances in preimplantation embryos from preimplantation genetic diagnosis cycles of reciprocal Translocations with or without acrocentric chromosomes
    Fertility and Sterility, 2008
    Co-Authors: In Ok Song, Inn Soo Kang, Yong-dal Yoon
    Abstract:

    Objective To estimate chromosomal imbalances in preimplantation embryos from reciprocal Translocation carriers with or without acrocentric chromosomes (Acro-Ch) 13, 14, 15, 21, and 22 in preimplantation genetic diagnosis (PGD) cycles. Design Fluorescence in situ hybridization was applied to PGD cycles for reciprocal Translocation carriers. Setting University-based centers for reproductive medicine. Patient(s) Ten and 24 patients of reciprocal Translocation with and without Acro-Ch, respectively. Intervention(s) Fluorescence in situ hybridization in biopsied blastomeres. Main Outcome Measure(s) Estimation of meiotic segregation mode in embryos from Translocation carriers. Result(s) The proportion of alternative segregation for normal or balanced chromosome contents in preimplantation embryos from PGD cycles in reciprocal Translocations without Acro-Ch was significantly higher than that with Acro-Ch (26.0% vs. 14.6%). The proportion of interchange trisomy in 3:1 segregation was significantly lower in reciprocal Translocations without Acro-Ch than that with Acro-Ch (4.3% vs. 9.5%). Conclusion(s) This is the first report that the incidence of alternative segregation producing normal or balanced embryos was relatively low in reciprocal Translocations associated with Acro-Ch. Our data may be useful to predict the possibility of normal or balanced embryos and to counsel with reciprocal Translocation carriers for PGD–fluorescence in situ hybridization cycles.

  • Estimation of chromosomal imbalances in preimplantation embryos from preimplantation genetic diagnosis cycles of reciprocal Translocations with or without acrocentric chromosomes
    Fertility and sterility, 2008
    Co-Authors: Chun Kyu Lim, In Ok Song, Inn Soo Kang, Yong-dal Yoon, Jae Won Cho, Jin Hyun Jun
    Abstract:

    Objective To estimate chromosomal imbalances in preimplantation embryos from reciprocal Translocation carriers with or without acrocentric chromosomes (Acro-Ch) 13, 14, 15, 21, and 22 in preimplantation genetic diagnosis (PGD) cycles. Design Fluorescence in situ hybridization was applied to PGD cycles for reciprocal Translocation carriers. Setting University-based centers for reproductive medicine. Patient(s) Ten and 24 patients of reciprocal Translocation with and without Acro-Ch, respectively. Intervention(s) Fluorescence in situ hybridization in biopsied blastomeres. Main Outcome Measure(s) Estimation of meiotic segregation mode in embryos from Translocation carriers. Result(s) The proportion of alternative segregation for normal or balanced chromosome contents in preimplantation embryos from PGD cycles in reciprocal Translocations without Acro-Ch was significantly higher than that with Acro-Ch (26.0% vs. 14.6%). The proportion of interchange trisomy in 3:1 segregation was significantly lower in reciprocal Translocations without Acro-Ch than that with Acro-Ch (4.3% vs. 9.5%). Conclusion(s) This is the first report that the incidence of alternative segregation producing normal or balanced embryos was relatively low in reciprocal Translocations associated with Acro-Ch. Our data may be useful to predict the possibility of normal or balanced embryos and to counsel with reciprocal Translocation carriers for PGD–fluorescence in situ hybridization cycles.

Jin Hyun Jun - One of the best experts on this subject based on the ideXlab platform.

  • Estimation of chromosomal imbalances in preimplantation embryos from preimplantation genetic diagnosis cycles of reciprocal Translocations with or without acrocentric chromosomes
    Fertility and sterility, 2008
    Co-Authors: Chun Kyu Lim, In Ok Song, Inn Soo Kang, Yong-dal Yoon, Jae Won Cho, Jin Hyun Jun
    Abstract:

    Objective To estimate chromosomal imbalances in preimplantation embryos from reciprocal Translocation carriers with or without acrocentric chromosomes (Acro-Ch) 13, 14, 15, 21, and 22 in preimplantation genetic diagnosis (PGD) cycles. Design Fluorescence in situ hybridization was applied to PGD cycles for reciprocal Translocation carriers. Setting University-based centers for reproductive medicine. Patient(s) Ten and 24 patients of reciprocal Translocation with and without Acro-Ch, respectively. Intervention(s) Fluorescence in situ hybridization in biopsied blastomeres. Main Outcome Measure(s) Estimation of meiotic segregation mode in embryos from Translocation carriers. Result(s) The proportion of alternative segregation for normal or balanced chromosome contents in preimplantation embryos from PGD cycles in reciprocal Translocations without Acro-Ch was significantly higher than that with Acro-Ch (26.0% vs. 14.6%). The proportion of interchange trisomy in 3:1 segregation was significantly lower in reciprocal Translocations without Acro-Ch than that with Acro-Ch (4.3% vs. 9.5%). Conclusion(s) This is the first report that the incidence of alternative segregation producing normal or balanced embryos was relatively low in reciprocal Translocations associated with Acro-Ch. Our data may be useful to predict the possibility of normal or balanced embryos and to counsel with reciprocal Translocation carriers for PGD–fluorescence in situ hybridization cycles.

Inn Soo Kang - One of the best experts on this subject based on the ideXlab platform.

  • Estimation of chromosomal imbalances in preimplantation embryos from preimplantation genetic diagnosis cycles of reciprocal Translocations with or without acrocentric chromosomes
    Fertility and Sterility, 2008
    Co-Authors: In Ok Song, Inn Soo Kang, Yong-dal Yoon
    Abstract:

    Objective To estimate chromosomal imbalances in preimplantation embryos from reciprocal Translocation carriers with or without acrocentric chromosomes (Acro-Ch) 13, 14, 15, 21, and 22 in preimplantation genetic diagnosis (PGD) cycles. Design Fluorescence in situ hybridization was applied to PGD cycles for reciprocal Translocation carriers. Setting University-based centers for reproductive medicine. Patient(s) Ten and 24 patients of reciprocal Translocation with and without Acro-Ch, respectively. Intervention(s) Fluorescence in situ hybridization in biopsied blastomeres. Main Outcome Measure(s) Estimation of meiotic segregation mode in embryos from Translocation carriers. Result(s) The proportion of alternative segregation for normal or balanced chromosome contents in preimplantation embryos from PGD cycles in reciprocal Translocations without Acro-Ch was significantly higher than that with Acro-Ch (26.0% vs. 14.6%). The proportion of interchange trisomy in 3:1 segregation was significantly lower in reciprocal Translocations without Acro-Ch than that with Acro-Ch (4.3% vs. 9.5%). Conclusion(s) This is the first report that the incidence of alternative segregation producing normal or balanced embryos was relatively low in reciprocal Translocations associated with Acro-Ch. Our data may be useful to predict the possibility of normal or balanced embryos and to counsel with reciprocal Translocation carriers for PGD–fluorescence in situ hybridization cycles.

  • Estimation of chromosomal imbalances in preimplantation embryos from preimplantation genetic diagnosis cycles of reciprocal Translocations with or without acrocentric chromosomes
    Fertility and sterility, 2008
    Co-Authors: Chun Kyu Lim, In Ok Song, Inn Soo Kang, Yong-dal Yoon, Jae Won Cho, Jin Hyun Jun
    Abstract:

    Objective To estimate chromosomal imbalances in preimplantation embryos from reciprocal Translocation carriers with or without acrocentric chromosomes (Acro-Ch) 13, 14, 15, 21, and 22 in preimplantation genetic diagnosis (PGD) cycles. Design Fluorescence in situ hybridization was applied to PGD cycles for reciprocal Translocation carriers. Setting University-based centers for reproductive medicine. Patient(s) Ten and 24 patients of reciprocal Translocation with and without Acro-Ch, respectively. Intervention(s) Fluorescence in situ hybridization in biopsied blastomeres. Main Outcome Measure(s) Estimation of meiotic segregation mode in embryos from Translocation carriers. Result(s) The proportion of alternative segregation for normal or balanced chromosome contents in preimplantation embryos from PGD cycles in reciprocal Translocations without Acro-Ch was significantly higher than that with Acro-Ch (26.0% vs. 14.6%). The proportion of interchange trisomy in 3:1 segregation was significantly lower in reciprocal Translocations without Acro-Ch than that with Acro-Ch (4.3% vs. 9.5%). Conclusion(s) This is the first report that the incidence of alternative segregation producing normal or balanced embryos was relatively low in reciprocal Translocations associated with Acro-Ch. Our data may be useful to predict the possibility of normal or balanced embryos and to counsel with reciprocal Translocation carriers for PGD–fluorescence in situ hybridization cycles.

Guy A Rouleau - One of the best experts on this subject based on the ideXlab platform.

  • gene fusion with an ets dna binding domain caused by chromosome Translocation in human tumours
    Nature, 1992
    Co-Authors: Olivier Delattre, Jessica Zucman, Beatrice Plougastel, Chantal Desmaze, Thomas Melot, Martine Peter, Heinrich Kovar, Isabelle Joubert, Pieter J De Jong, Guy A Rouleau
    Abstract:

    EWING'S sarcoma and related subtypes of primitive neuroectodermal tumours share a recurrent and specific t(ll;22) (q24;q12) chromosome Translocation1–8, the breakpoints of which have recently been cloned9. Phylogenetically conserved restriction fragments in the vicinity of EWSR1 and EWSR2, the genomic regions where the breakpoints of chromosome 22 and chromosome 11 are, respectively, have allowed identification of transcribed sequences from these regions and has indicated that a hybrid transcript might be generated by the Translocation9. Here we use these fragments to screen human complementary DNA libraries to show that the Translocation alters the open reading frame of an expressed gene on chromosome 22 gene by substituting a sequence encoding a putative RNA-binding domain for that of the DNA-binding domain of the human homologue of murine Fli-1.

  • gene fusion with an ets dna binding domain caused by chromosome Translocation in human tumours
    Nature, 1992
    Co-Authors: Olivier Delattre, Jessica Zucman, Beatrice Plougastel, Chantal Desmaze, Thomas Melot, Martine Peter, Heinrich Kovar, Isabelle Joubert, Pieter J De Jong, Guy A Rouleau
    Abstract:

    EWING'S sarcoma and related subtypes of primitive neuroectodermal tumours share a recurrent and specific t(ll;22) (q24;q12) chromosome Translocation1–8, the breakpoints of which have recently been cloned9. Phylogenetically conserved restriction fragments in the vicinity of EWSR1 and EWSR2, the genomic regions where the breakpoints of chromosome 22 and chromosome 11 are, respectively, have allowed identification of transcribed sequences from these regions and has indicated that a hybrid transcript might be generated by the Translocation9. Here we use these fragments to screen human complementary DNA libraries to show that the Translocation alters the open reading frame of an expressed gene on chromosome 22 gene by substituting a sequence encoding a putative RNA-binding domain for that of the DNA-binding domain of the human homologue of murine Fli-1.