FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother

Am J Med Genet A. 2011 Jan;155A(1):221-4. doi: 10.1002/ajmg.a.33515. Epub 2010 Dec 10.
No abstract available

MeSH terms

  • Adolescent
  • Adult
  • Chromosome Deletion*
  • Chromosome Inversion*
  • Chromosomes, Human, X / genetics*
  • Comparative Genomic Hybridization
  • Female
  • Fragile X Mental Retardation Protein / genetics*
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / pathology
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Membrane Proteins / genetics*
  • Nuclear Proteins / genetics*

Substances

  • AFF2 protein, human
  • FMR1 protein, human
  • Membrane Proteins
  • Nuclear Proteins
  • TEX28 protein, human
  • Fragile X Mental Retardation Protein