Fragile X syndrome historical perspective

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.

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.

Martin JP, Bell J. A pedigree of mental defect showing sex- linkage. J Neurol Psychiatry. 1943; 6(3-4): 154–7