Robertsonian Translocations – Educational Webinar
Channel: MHSc Medical Genomics
Date: 2022-12-01

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).