Mosaicism for a full mutation and a normal size allele in two fragile X males.

@article{Schmucker1999MosaicismFA,
  title={Mosaicism for a full mutation and a normal size allele in two fragile X males.},
  author={Beatrice Schmucker and Joerg Seidel},
  journal={American journal of medical genetics},
  year={1999},
  volume={84 3},
  pages={221-5}
}
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 under discussion. We report two cases of males who show mosaic… CONTINUE READING