Are you in the mood to chat chromosomes, specifically the X chromosome? If so, have we got the perfect episode for you! You may have come across the definition of Turner syndrome as a genetic condition resulting from the partial or complete loss of an X chromosome, but what does that actually mean? What is the X chromosome, what does it do, and why is it so important? We attempt to answer these questions with our exploration into the biology of Turner syndrome before setting our sights on the who’s and when’s of the X chromosome and Turner syndrome. Our path through the history of these bundled packets of genetic material wouldn’t be complete without some fascinating detours, such as an exploration into the inspiring life of Nettie Stevens and the beautiful variations in sex chromosomes found in the animal kingdom. Finally, we wrap up our episode by taking stock of how much progress we’ve made with Turner syndrome treatment and research but also how far we still have to go. Tune in for all this and more!
| History | Biology |
| Richardson, Sarah S.Sex Itself. University of Chicago Press, 2013. | Davenport, M.L., 2010. Approach to the patient with Turner syndrome. The Journal of Clinical Endocrinology & Metabolism, 95(4), pp.1487-1495. |
| Abbott, Jessica K., Anna K. Nordén, and Bengt Hansson. “Sex chromosome evolution: historical insights and future perspectives.” Proceedings of the Royal Society B: Biological Sciences 284.1854 (2017): 20162806. | Gravholt, C.H., Viuff, M.H., Brun, S., Stochholm, K. and Andersen, N.H., 2019. Turner syndrome: mechanisms and management. Nature Reviews Endocrinology, 15(10), pp.601-614. |
| Brush, Stephen G. “Nettie M. Stevens and the discovery of sex determination by chromosomes.” Isis 69.2 (1978): 163-172. | Ross, J., Roeltgen, D. and Zinn, A., 2006. Cognition and the sex chromosomes: studies in Turner syndrome. Hormone Research in Paediatrics, 65(1), pp.47-56. |
| Ford, C. E., et al. “A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner’s syndrome).” (1959): 711. | Saenger, P., Wikland, K.A., Conway, G.S., Davenport, M., Gravholt, C.H., Hintz, R., Hovatta, O., Hultcrantz, M., Landin-Wilhelmsen, K., Lin, A. and Lippe, B., 2001. Recommendations for the diagnosis and management of Turner syndrome. The Journal of Clinical Endocrinology & Metabolism, 86(7), pp.3061-3069. |
| Furman, Benjamin LS, et al. “Sex chromosome evolution: so many exceptions to the rules.” Genome biology and evolution 12.6 (2020): 750-763. | Bondy, C.A. and Turner Syndrome Consensus Study Group, 2007. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. The Journal of Clinical Endocrinology & Metabolism, 92(1), pp.10-25. |
| Graves, Jennifer A. Marshall. “Sex chromosome specialization and degeneration in mammals.” Cell 124.5 (2006): 901-914. | Gravholt, C.H., Viuff, M., Just, J., Sandahl, K., Brun, S., van der Velden, J., Andersen, N.H. and Skakkebaek, A., 2022. The changing face of Turner syndrome. Endocrine reviews. |
| Moore, Emily C., and Reade B. Roberts. “Polygenic sex determination.” Current Biology 23.12 (2013): R510-R512. | Ross, J., Zinn, A. and McCauley, E., 2000. Neurodevelopmental and psychosocial aspects of Turner syndrome. Mental retardation and developmental disabilities research reviews, 6(2), pp.135-141. |
| Saenger, P., et al. “Recommendations for the diagnosis and management of Turner syndrome.” The Journal of Clinical Endocrinology & Metabolism 86.7 (2001): 3061-3069. | Cui, X., Cui, Y., Shi, L., Luan, J., Zhou, X. and Han, J., 2018. A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment. Intractable & rare diseases research, 7(4), pp.223-228. |
| Sudai, Maayan, et al. “Law, policy, biology, and sex: Critical issues for researchers.” Science 376.6595 (2022): 802-804. | Berglund, A., Stochholm, K. and Gravholt, C.H., 2020, June. The epidemiology of sex chromosome abnormalities. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 184, No. 2, pp. 202-215). Hoboken, USA: John Wiley & Sons, Inc.. |
| Turner, Henry H. “A syndrome of infantilism, congenital webbed neck, and cubitus valgus.” Endocrinology 23.5 (1938): 566-574. | |
| Wiedemann, H‐R., and J. Glatzl. “Follow‐up of Ullrich’s original patient with “Ullrich‐Turner” syndrom.” American journal of medical genetics 41.1 (1991): 134-136. | |
| Wiedemann, Hans‐Rudolf. “Otto Ullrich and his syndromes.” American Journal of Medical Genetics 41.1 (1991): 128-133. |
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