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A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood

โœ Scribed by Maddalena, Anne; Yadvish, Karen N.; Spence, W. Christine; Howard-Peebles, Patricia N.


Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
492 KB
Volume
64
Category
Article
ISSN
0148-7299

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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

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Fragile X syndrome is associated with an unstable CGG-repeat in the FMR-1 gene. There are few reports of affected males transmitting the FMR-1 gene to offspring. We report on a family in which the propositus and his twin sister each had a full mutation with abnormal methylation. Their mother had an