caa a22 4500 445816503 CHVBK 20180317145230.0 cr unu---uuuuu 170323e20110101xx s 000 0 eng 10.1007/s10815-010-9483-7 doi (NATIONALLICENCE)springer-10.1007/s10815-010-9483-7 Preimplantation genetic haplotyping a new application for diagnosis of translocation carrier's embryos- preliminary observations of two robertsonian translocation carrier families [Elektronische Daten] [Jana Shamash, Shlomit Rienstein, Haike Wolf-Reznik, Elon Pras, Michal Dekel, Talia Litmanovitch, Masha Brengauz, Boleslav Goldman, Hagith Yonath, Jehoshua Dor, Jacob Levron, Ayala Aviram-Goldring] Purpose: Preimplantation genetic diagnosis using fluorescence in-situ hybridization (PGD-FISH) is currently the most common reproductive solution for translocation carriers. However, this technique usually does not differentiate between embryos carrying the balanced form of the translocation and those carrying the homologous normal chromosomes. We developed a new application of preimplantation genetic haplotyping (PGH) that can identify and distinguish between all forms of the translocation status in cleavage stage embryos prior to implantation. Methods: Polymorphic markers were used to identify and differentiate between the alleles that carry the translocation and those that are the normal homologous chromosomes. Results: Embryos from two families of robertsonian translocation carriers were successfully analyzed using polymorphic markers haplotyping. Conclusions: Our preliminary results indicate that the PGH is capable of distinguishing between normal, balanced and unbalanced translocation carrier embryos. This method will improve PGD and will enable translocation carriers to avoid transmission of the translocation and the associated medical complications to offspring. Springer Science+Business Media, LLC, 2010 Chromosomal translocation nationallicence Fertility problems nationallicence Fluorescence in-situ hybridization nationallicence Polymorphic markers nationallicence Preimplantation genetic diagnosis nationallicence Shamash Jana Danek-Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, 52621, Ramat Gan, Israel aut Rienstein Shlomit Danek-Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, 52621, Ramat Gan, Israel aut Wolf-Reznik Haike Danek-Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, 52621, Ramat Gan, Israel aut Pras Elon Danek-Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, 52621, Ramat Gan, Israel aut Dekel Michal Danek-Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, 52621, Ramat Gan, Israel aut Litmanovitch Talia Danek-Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, 52621, Ramat Gan, Israel aut Brengauz Masha In Vitro Fertilization Unit, Department of Obstetrics and Gynecology, Chaim Sheba Medical Center, Tel Hashomer, Israel aut Goldman Boleslav The Genetic Policy and Bioethics Unit, Gertner Institute Chaim Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel aut Yonath Hagith Danek-Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, 52621, Ramat Gan, Israel aut Dor Jehoshua In Vitro Fertilization Unit, Department of Obstetrics and Gynecology, Chaim Sheba Medical Center, Tel Hashomer, Israel aut Levron Jacob In Vitro Fertilization Unit, Department of Obstetrics and Gynecology, Chaim Sheba Medical Center, Tel Hashomer, Israel aut Aviram-Goldring Ayala Danek-Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, 52621, Ramat Gan, Israel aut Journal of Assisted Reproduction and Genetics Springer US; http://www.springer-ny.com 28/1(2011-01-01), 77-83 1058-0468 28:1<77 2011 28 10815 https://doi.org/10.1007/s10815-010-9483-7 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10815-010-9483-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Shamash Jana Danek-Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, 52621, Ramat Gan, Israel aut NATIONALLICENCE 700 1- Rienstein Shlomit Danek-Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, 52621, Ramat Gan, Israel aut NATIONALLICENCE 700 1- Wolf-Reznik Haike Danek-Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, 52621, Ramat Gan, Israel aut NATIONALLICENCE 700 1- Pras Elon Danek-Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, 52621, Ramat Gan, Israel aut NATIONALLICENCE 700 1- Dekel Michal Danek-Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, 52621, Ramat Gan, Israel aut NATIONALLICENCE 700 1- Litmanovitch Talia Danek-Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, 52621, Ramat Gan, Israel aut NATIONALLICENCE 700 1- Brengauz Masha In Vitro Fertilization Unit, Department of Obstetrics and Gynecology, Chaim Sheba Medical Center, Tel Hashomer, Israel aut NATIONALLICENCE 700 1- Goldman Boleslav The Genetic Policy and Bioethics Unit, Gertner Institute Chaim Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel aut NATIONALLICENCE 700 1- Yonath Hagith Danek-Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, 52621, Ramat Gan, Israel aut NATIONALLICENCE 700 1- Dor Jehoshua In Vitro Fertilization Unit, Department of Obstetrics and Gynecology, Chaim Sheba Medical Center, Tel Hashomer, Israel aut NATIONALLICENCE 700 1- Levron Jacob In Vitro Fertilization Unit, Department of Obstetrics and Gynecology, Chaim Sheba Medical Center, Tel Hashomer, Israel aut NATIONALLICENCE 700 1- Aviram-Goldring Ayala Danek-Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, 52621, Ramat Gan, Israel aut NATIONALLICENCE 773 0- Journal of Assisted Reproduction and Genetics Springer US; http://www.springer-ny.com 28/1(2011-01-01), 77-83 1058-0468 28:1<77 2011 28 10815 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer