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A Single Nucleotide Variant in the FMR1 CGG Repeat Results in a “Pseudodeletion” and Is Not Associated with the Fragile X Syndrome Phenotype

✍ Scribed by Cecconi, Massimiliano; Forzano, Francesca; Rinaldi, Rosanna; Cappellacci, Sandra; Grammatico, Paola; Faravelli, Francesca; Dagna Bricarelli, Franca; Di Maria, Emilio; Grasso, Marina


Book ID
125455191
Publisher
American Society for Investigative Pathology
Year
2008
Tongue
English
Weight
455 KB
Volume
10
Category
Article
ISSN
1525-1578

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Several mechanisms can explain the occurrence of full-mutation fragile X males with an I& level above -2 SD below mean, also called "high-functioning fragile X males." Incomplete methylation of the CpG island at the 5' end of the FMRl gene is one of these mechanisms. The present study describes the