Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations
Original languageEnglish (US)
Title of host publicationGenetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: Sixth Edition
Number of pages16
ISBN (Print)9781405190879
StatePublished - May 18 2010


  • Amniotic fluid (AF) or chorionic villus sampling (CVS)
  • Clinical phenotype in premutation
  • Fragile X mental retardation 1 (FMR1) gene, premutation and full mutation
  • Fragile X-associated tremor/ataxia syndrome (FXTAS)
  • Molecular prenatal diagnosis methodology
  • Permutation pathogenesis-associated disorder, fragile X-associated tremor/ataxia syndrome
  • Preimplantation genetic diagnosis (PGD) utilizing polar body analysis
  • Prenatal diagnosis and spectrum of involvement from fragile X mutations
  • Primary ovarian insufficiency (POI)-women becoming pregnant
  • Screening women with POI onset before 40-ruling out fragile X-associated POI

ASJC Scopus subject areas

  • Medicine(all)

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