The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells.

@article{Graaff1996TheFX,
  title={The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells.},
  author={Esther de Graaff and Bert B A de Vries and Rob Willemsen and Johan Van hemel and Serieta Mohkamsing and Ben A. Oostra and Ans M. W. van den Ouweland},
  journal={American journal of medical genetics},
  year={1996},
  volume={64 2},
  pages={302-8}
}
The instability of the CGG repeat region of FMR1 is not restricted to the CGG repeat but expands to flanking sequences as well. A mosaic fragile X male is reported with a deletion of part of the CGG repeat and 30 bp immediately 3' of the repeat, thus confirming the presence of a hotspot for deletions in the CGG region of FMR1. The deletion, detected in 28% of his lymphocytes, did not impair the transcription and translation of FMR1, suggesting that regulatory elements are not present in the… CONTINUE READING

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