Fragile X syndrome historical perspective

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

Overview

Fragile x syndrome is the leading inherited cause of intellectual disorder and autism spectrum disorder with severe behavioral abnormalities . It is an X linked disorder, affecting both males and females. It is a genetic disease caused by CGG trinucleotide expansion (>200 CGG repeats).

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