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
β¦ LIBER β¦
Parkinsonism and cognitive decline in a fragile X mosaic male
β Scribed by Deborah Hall; Laura Pickler; Karen Riley; Flora Tassone; Randi Hagerman
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 663 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0885-3185
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## Abstract The recent claims for a decline in intelligence test performance in males and females with fragileβX (fra(X)) syndrome have implications both clinically and in evaluating the underlying neurological basis. This commentary identifies three key issues in evaluating evidence for a decline