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Robertsonian Translocations – Educational Webinar

This interactive webinar is intended for individuals who have recently learned that they carry a genetic anomaly called a Robertsonian translocation. It is designed to accompany and provide preparation for a genetic counselling session. We’ll cover some genetic basics, what a Robertsonian translocation is, and how being a carrier can affect fertility and family planning. We’ll also answer some frequently asked questions about the condition with the help of a board-certified genetic counsellor. Webinar References 1. Chang, E.M., Han, J.E., Kwak, I.P., Lee, W.S., Yoon, T.K., and Shim, S.H. (2012). Preimplantation genetic diagnosis for couples with a Robertsonian translocation: practical information for genetic counseling. J Assist Reprod Genet 29, 67–75. 10.1007/s10815- 011-9654-1. 2. Engels, H., Eggermann, T., Caliebe, A., Jelska, A., Schubert, R., Schüler, H.M., Panasiuk, B., Zaremba, J., Latos-Bieleńska, A., Jakubowski, L., et al. (2008). Genetic counseling in Robertsonian translocations der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigrees. Am J Med Genet A 146A, 2611–2616. 10.1002/ajmg.a.32500. 3. Homfray, T., and Farndon, P.A. (2015). Chapter 7 - Fetal Anomalies – The Geneticist’s Approach. In Twining’s Textbook of Fetal Abnormalities (Third Edition), A. M. Coady and S. Bower, eds. (Churchill Livingstone), pp. 139–160. 10.1016/B978-0-7020-4591- 2.00007-3. 4. Kagan, K.O., Sonek, J., and Kozlowski, P. (2022). Antenatal screening for chromosomal abnormalities. Arch Gynecol Obstet 305, 825–835. 10.1007/s00404-022-06477-5. 5. Kolgeci, S., Kolgeci, J., Azemi, M., Shala, R., Dakas, A., and Sopjani, M. (2013). Reproductive risk of the silent carrier of Robertsonian translocation. Med Arch 67, 56– 59. 10.5455/medarh.2013.67.56-59. 6. Kolgeci, S., Kolgeci, J., Azemi, M., Daka, A., Shala-Beqiraj, R., Kurtishi, I., and Sopjani, M. (2015). Dermatoglyphics and Reproductive Risk in a Family with Robertsonian Translocation 14q;21q. Acta Inform Med 23, 178–183. 10.5455/aim.2015.23.179-183. 7. Mack, H., and Swisshelm, K. (2013). Robertsonian Translocations. In Brenner’s Encyclopedia of Genetics (Second Edition), S. Maloy and K. Hughes, eds. (Academic Press), pp. 301–305. 10.1016/B978-0-12-374984-0.01357-7. 8. Salomon, L.J., Sotiriadis, A., Wulff, C.B., Odibo, A., and Akolekar, R. (2019). Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta-analysis. Ultrasound Obstet Gynecol 54, 442–451. 10.1002/uog.20353. 9. Scriven, P.N., Flinter, F.A., Braude, P.R., and Ogilvie, C.M. (2001). Robertsonian translocations—reproductive risks and indications for preimplantation genetic diagnosis. Human Reproduction 16, 2267–2273. 10.1093/humrep/16.11.2267. 10. Tunç, E., and Ilgaz, S. (2022). Robertsonian translocation (13;14) and its clinical manifestations: a literature review. Reprod Biomed Online 45, 563–573. 10.1016/j.rbmo.2022.05.019. 11. Vičić, A., Hafner, T., Bekavac Vlatković, I., Korać, P., Habek, D., and Stipoljev, F. (2017). Prenatal diagnosis of Down syndrome: A 13-year retrospective study. Taiwan J Obstet Gynecol 56, 731–735. 10.1016/j.tjog.2017.10.004. 12. Williams, G.M., and Brady, R. (2022). Patau Syndrome. In StatPearls (StatPearls Publishing).