FMR1 fuiiy expanded mutation with minimal methylation in a high functioning fragile X male

Zhimin Wang, Annette K. Taylor, Julia A. Bridge

Research output: Contribution to journalArticle

35 Scopus citations

Abstract

Abstract Cytogenetic and molecular genetic anal-ysis 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 ex-pressed a fragile X chromosome and mo-lecular 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.

Original languageEnglish (US)
Pages (from-to)376-378
Number of pages3
JournalJournal of medical genetics
Volume33
Issue number5
StatePublished - 1996

Keywords

  • FAIR! gene
  • Fragile X syndrome
  • Methyl-ation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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