Fragile X syndrome historical perspective

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

James Purdon Martin and Julia Bell first described fragile X syndrome in 1943. A case study of family showed intellectual disability appeared to be inherited and linked to the X chromosome. Later in 1969, Herbert Lubs observed a characteristic fragile site on the lower end of the X chromosome, which was responsible for the disease.

Historical Perspective

Fragile X syndrome was described first by Martin and Bell in 1943.

References

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