The repetition of more than 200 copies of the CGG triplet in the FMR1 gene produces a change in the DNA sequence of this gene that prevents the correct production of the corresponding protein. Under specific conditions generated in the laboratory, it is possible to detect a breakage zone at one end of the X chromosome called a fragile site.
Comparison between normal chromosome and fragile X chromosome
By Marta Barranquero Gómez B.Sc., M.Sc. (embryologist), Rut Gómez de Segura M.D. (gynecologist), Sergio Rogel Cayetano M.D. (gynecologist), Victoria Moliner BSc, MSc (embryologist) and Cristina Algarra Goosman B.Sc., M.Sc. (psychologist).
Last Update: 01/24/2022