## 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
Fragile X syndrome: Neuropathology center
โ Scribed by Brown, W. Ted ;Rudelli, Raul D. ;Wisniewski, Henry M.
- Publisher
- John Wiley and Sons
- Year
- 1988
- Tongue
- English
- Weight
- 205 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0148-7299
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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.
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
o b s t r u c t i v e s l e e p apnea (OSA). A f t e r a s t r u ctured interview, 4 of them underwent an overnight polygraphic study. The r e s u l t s i n d i c a t e an increased r i s k f o r OSA among subjects with fra(X) ( 4 / 7 ) . In 2 of t h e s u b j e c t s polygraphic study indicated a s