Fragile X syndrome historical perspective: Difference between revisions
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== Overview == | == 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 == | == Historical Perspective == | ||
Revision as of 17:53, 17 July 2021
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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
Martin and Bell in 1943, described a pedigree of X-linked mental disability, without considering the macroorchidism.[1] In 1969 Chris and Weesam first sighted an unusual "marker X chromosome" in association with mental disability.[2] In 1970 Frederick Hecht coined the term "fragile site" (Renpenning's syndrome is not synonymous with the Martin-Bell (fragile X) syndrome). In Renpennig's syndrome there is no fragile site on the X chromosome. Renpenning’s cases had short stature, moderate microcephaly, and neurological disorders.
Escalante's syndrome is synonymous with the fragile X syndrome. This term has been used in Brazil and other South American countries.
References
- ↑ Martin, J. P. & Bell, J. "A pedigree of mental defect showing sex-linkage". Journal of neurology, neurosurgery, and psychiatry (J. Neurol. Psychiat.). BMJ Publishing Group, London 6.1943, 154-157. Template:ISSN
- ↑ Lubs, H. (1969) "A marker X chromosome". Am Hum Genet 21: 231.