Fragile X syndrome and neoplasia
โ Scribed by Phelan, Mary C. ;Stevenson, Roger E. ;Collins, Jack L. ;Trent, Howard E.
- Publisher
- John Wiley and Sons
- Year
- 1988
- Tongue
- English
- Weight
- 307 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0148-7299
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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
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
The much-quoted prevalence figure of 1:1,000 males for fragile X syndrome is an overestimate in a mixed ethnic population. A reexamination of the individuals from whom those data were derived using molecular diagnostic techniques demonstrates a more realistic figure of 1:4,000 males.