caa a22 4500 445817283 CHVBK 20180317145232.0 cr unu---uuuuu 170323e20110301xx s 000 0 eng 10.1007/s10815-010-9508-2 doi (NATIONALLICENCE)springer-10.1007/s10815-010-9508-2 Preimplantation genetic diagnosis (PGD) for SHOX-related haploinsufficiency in conjunction with trisomy 21 detection by molecular analysis [Elektronische Daten] [Gheona Altarescu, Orit Reish, Paul Renbaum, Ester Kasterstein, Dvorah Komarovsky, Alisa Komsky, Orna Bern, Dvorah Strassburger, Ephrat Levy-Lahad, Raphael Ron-El] Purpose: Development of a molecular PGD protocol for a male with an X-linked deletion in the SHOX gene region, located in the pseudoautosomal region of the X/Y chromosomes. Due to excessive recombination in this region, the deletion can be found in male offspring. Methods: We developed a 13 marker multiplex fluorescent PCR protocol: 3 markers within the deleted SHOX region, 5 flanking markers, 3 informative markers on chromosome 21 (advanced maternal age) and 2 markers for sex determination. Results: Of four embryos, two wild type males, diploid for chromosome 21 were transferred resulting in twin boys. One embryo was an affected female and another embryo was Turner. Amniocentesis confirmed the implanted embryos were males (46XY), with no recombinations. Conclusions: While many X-linked disorders can be analyzed by sexing, genes located in the pseudoautosomal regions have high XY recombination rates, requiring multiple markers to enable an accurate diagnosis. Springer Science+Business Media, LLC, 2010 Preimplantation genetic diagnosis nationallicence Multiplex PCR nationallicence Blastomere nationallicence SHOX-related haploinsufficiency nationallicence Trisomy 21 nationallicence Altarescu Gheona ZOHAR PGD Unit, Medical Genetics Institute, Shaare Zedek Medical Center, POB 3235, Jerusalem, Israel aut Reish Orit Genetics Institute, Assaf Harofeh Medical Center, Zerifin, Israel aut Renbaum Paul ZOHAR PGD Unit, Medical Genetics Institute, Shaare Zedek Medical Center, POB 3235, Jerusalem, Israel aut Kasterstein Ester IVF Unit, Assaf Harofeh Medical Center, Tel Aviv University, Zerifin, Israel aut Komarovsky Dvorah IVF Unit, Assaf Harofeh Medical Center, Tel Aviv University, Zerifin, Israel aut Komsky Alisa IVF Unit, Assaf Harofeh Medical Center, Tel Aviv University, Zerifin, Israel aut Bern Orna IVF Unit, Assaf Harofeh Medical Center, Tel Aviv University, Zerifin, Israel aut Strassburger Dvorah IVF Unit, Assaf Harofeh Medical Center, Tel Aviv University, Zerifin, Israel aut Levy-Lahad Ephrat ZOHAR PGD Unit, Medical Genetics Institute, Shaare Zedek Medical Center, POB 3235, Jerusalem, Israel aut Ron-El Raphael IVF Unit, Assaf Harofeh Medical Center, Tel Aviv University, Zerifin, Israel aut Journal of Assisted Reproduction and Genetics Springer US; http://www.springer-ny.com 28/3(2011-03-01), 233-238 1058-0468 28:3<233 2011 28 10815 https://doi.org/10.1007/s10815-010-9508-2 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10815-010-9508-2 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Altarescu Gheona ZOHAR PGD Unit, Medical Genetics Institute, Shaare Zedek Medical Center, POB 3235, Jerusalem, Israel aut NATIONALLICENCE 700 1- Reish Orit Genetics Institute, Assaf Harofeh Medical Center, Zerifin, Israel aut NATIONALLICENCE 700 1- Renbaum Paul ZOHAR PGD Unit, Medical Genetics Institute, Shaare Zedek Medical Center, POB 3235, Jerusalem, Israel aut NATIONALLICENCE 700 1- Kasterstein Ester IVF Unit, Assaf Harofeh Medical Center, Tel Aviv University, Zerifin, Israel aut NATIONALLICENCE 700 1- Komarovsky Dvorah IVF Unit, Assaf Harofeh Medical Center, Tel Aviv University, Zerifin, Israel aut NATIONALLICENCE 700 1- Komsky Alisa IVF Unit, Assaf Harofeh Medical Center, Tel Aviv University, Zerifin, Israel aut NATIONALLICENCE 700 1- Bern Orna IVF Unit, Assaf Harofeh Medical Center, Tel Aviv University, Zerifin, Israel aut NATIONALLICENCE 700 1- Strassburger Dvorah IVF Unit, Assaf Harofeh Medical Center, Tel Aviv University, Zerifin, Israel aut NATIONALLICENCE 700 1- Levy-Lahad Ephrat ZOHAR PGD Unit, Medical Genetics Institute, Shaare Zedek Medical Center, POB 3235, Jerusalem, Israel aut NATIONALLICENCE 700 1- Ron-El Raphael IVF Unit, Assaf Harofeh Medical Center, Tel Aviv University, Zerifin, Israel aut NATIONALLICENCE 773 0- Journal of Assisted Reproduction and Genetics Springer US; http://www.springer-ny.com 28/3(2011-03-01), 233-238 1058-0468 28:3<233 2011 28 10815 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer