A faster strategy for prenatal diagnosis of fragile X syndrome

Prenat Diagn. 2010 Dec;30(12-13):1217-9. doi: 10.1002/pd.2617.
No abstract available

Publication types

  • Evaluation Study
  • Letter

MeSH terms

  • Chorionic Villi Sampling
  • DNA Methylation
  • Female
  • Fragile X Mental Retardation Protein / genetics
  • Fragile X Syndrome / diagnosis*
  • Fragile X Syndrome / genetics
  • Humans
  • Male
  • Molecular Diagnostic Techniques / methods
  • Mutation
  • Polymerase Chain Reaction / methods
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Sensitivity and Specificity
  • Time Factors
  • Trinucleotide Repeat Expansion / genetics

Substances

  • FMR1 protein, human
  • Fragile X Mental Retardation Protein