Lafuente Sotillos, GuillermoDomínguez-Maldonado, GabrielMunuera Martínez, Pedro VicenteReina Bueno, María2024-02-142024-02-142018Lafuente Sotillos, G., Domínguez-Maldonado, G., Munuera Martínez, P.V. y Reina Bueno, M. (2018). Fragile chromosome x syndrome: Sequelae in feet and a case report. Clinical Case Reports and Reviews, 3 (9), 1-3. https://doi.org/10.15761/ccrr.1000366.2059-0393https://hdl.handle.net/11441/155246Fragile chromosome X syndrome is the prime cause of hereditary mental retardation and the second most frequent chromosomopathy after Down’s syndrome [1,2]. It is estimated to affect one in 4000 males and that there is one female carrier per 800 and one male carrier per 5000 [3,4]. The inactivated gene FMR1 codifies the disease and is altered at locus Xq27.3 (long arm of chromosome X) [1,5]. This gene determines the non-production of the protein FMRP [2,6,7] the deficiency of which causes the disease, as this protein is essential in the regulation of neuronal changes, stimuli, and maturation — that is, of the development of the nervous system — and also affects the development of connective tissue [3], the cause of the articular hyperlaxity presented by these patients [2]3 p.engAtribución 4.0 Internacionalhttp://creativecommons.org/licenses/by/4.0/Chromosome xSyndromeSequelaeFeetinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccesshttps://doi.org/10.15761/ccrr.1000366