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== Overview ==
== Overview ==


'''Fragile X syndrome''' is a [[syndrome]] of [[X-linked]] [[mental retardation]]. Boys with the syndrome may have large testicles ([[macroorchidism]]), [[prognathism]], [[hypotonia]] and [[autism]], and a characteristic but variable face with large ears, long face, high-arched [[palate]], [[gynecomastia]], and [[malocclusion]]. Additional abnormalities may include [[lordosis]], heart defect, [[pectus excavatum]], [[flat feet]], shortening of the tubular bones of the hands, and joint laxity. Females who have one fragile chromosome and one normal X chromosome may range from normal to mild manifestations of the fragile X syndrome. The fragile X syndrome has an estimated incidence of 1 in 3600 males and 1 in 4,000&ndash;6,000 females. <ref>Crawford, D.C.; Acuna, J.M. & Sherman, S.L. (2001) "FMR1 and the Fragile X syndrome: Human genome epidemiology review". ''Genet Med'' '''3''': 359-371</ref>
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).


== References ==
== References ==

Revision as of 17:59, 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).

References

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