45,X/46,XY mosaicism and fragile X syndrome

Am J Med Genet A. 2003 Jan 1;116A(1):99-100. doi: 10.1002/ajmg.a.10006.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, X / genetics*
  • Chromosomes, Human, Y / genetics*
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / pathology
  • Humans
  • Male
  • Mosaicism / genetics*
  • Mutation
  • Nerve Tissue Proteins / genetics
  • RNA-Binding Proteins*
  • Sex Chromosome Aberrations*

Substances

  • FMR1 protein, human
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • Fragile X Mental Retardation Protein