Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Fragile X syndrome historical perspective
Introduction
Overview
Overview
James Purdon Martin and Julia Bell first described fragile X syndrome in 1943. The association between fragile site in X chromosome and Fragile X syndrome was made in the year 1969.
Historical Perspective
Historical Perspective
Fragile X syndrome was described first by Martin and Bell, British geneticists, in 1943 while doing family case report with mental retardation. The disease was initially called as Martin Bell Syndrome after their discoveries. Later, a portion of X chromosome was found to be involved in all the patient with the disease, and the name was changed to Fragile X syndrome.
References
References
Martin JP, Bell J. A pedigree of mental defect showing sex- linkage. J Neurol Psychiatry. 1943; 6(3-4): 154–7
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]