The pathogenesis of Fragile-X syndrome is a consequence of absence of the FMRl gene product associated with expansion of the CGG repeat and abnormal methylation of this and a CpG island 250 bp proximal to the CGG repeat located at exon 1 in the FMRl gene. While this is usually the case, some suspect
Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene
β Scribed by Erwin Petek; Peter M. Kroisel; Margit Schuster; Hannelore Zierler; Klaus Wagner
- Book ID
- 119977099
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 134 KB
- Volume
- 84
- Category
- Article
- ISSN
- 0148-7299
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A four-year-old boy with severe psychomotor retardation, facial appearance consistent with the fragile X syndrome, hypotonia, and overgrowth was found to have a deletion including the fragile X gene (FMR1). The breakpoints of the deletion were established between CDR1 and sWXD2905 (approximately 200
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