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FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.
  1. Z Wang,
  2. A K Taylor,
  3. J A Bridge
  1. Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha 68198-5440, USA.


    Cytogenetic and molecular genetic analysis of a peripheral blood sample from a 31 year old, non-mentally retarded male with a family history of fragile X syndrome showed unexpected results. Nine percent of cells evaluated cytogenetically expressed a fragile X chromosome and molecular examination of the FMR1 gene showed a highly unusual pattern defined as a minimally methylated fully expanded mutation. This case illustrates the need to recognise exceptional variations of fragile X syndrome mutations.

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