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Fragile-X mutation and Klinefelter syndrome: A reappraisal

โœ Scribed by G., Filippi ;V., Pecile ;A., Rinaldi ;M., Siniscalco


Publisher
John Wiley and Sons
Year
1988
Tongue
English
Weight
449 KB
Volume
30
Category
Article
ISSN
0148-7299

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In this paper we report on a third patient with Klinefelter syndrome and fragile X. In the Leuven experience the simultaneous occurrence of both conditions is 1:155 (3 fra(X) positive Klinefelter patients in a total number of 465 fra(X) positive males), a concurrence much higher than expected by cha

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## Abstract Fragile X syndrome, the most common genetic disorder associated with mental retardation is caused by an expansion of the unstable CGG repeat within the __FMR1__ gene. Although overgrowth is not the main hallmark of this condition, the fragile X syndrome is usually included in the differ

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This is the first report that details an association between fragile X syndrome (FXS) and selective mutism (SM). This 12-year-old girl with heterozygous full mutation at FMR1 has a long history of social anxiety and shyness in addition to SM. Her sister also has the full mutation and a history of SM