Intranuclear inclusions in a fragile X mosaic male
✍ Scribed by Dalyir I Pretto, Michael R Hunsaker…
- Book ID
- 120797515
- Publisher
- BioMed Central
- Year
- 2013
- Tongue
- English
- Weight
- 462 KB
- Volume
- 2
- Category
- Article
- ISSN
- 2047-9158
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## Abstract A new tremor–ataxia syndrome, fragile X–associated tremor/ataxia syndrome (FXTAS), has been described among carriers of premutation expansions (55–200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The prevalence of FMR1 premutation alleles has been reported to be 1 in
Confirmation of the clinical diagnosis of fragile X syndrome by molecular tests is based on both the presence of a full mutation and methylation of the promotor region of the FMR1 gene. The mechanism leading to mosaic alleles of repeat number and the role of methylation in this process is still unde