Sex chromosome analysis in Turner Syndrome by a pentaplex PCR assay

Genet Test. 2003 Fall;7(3):245-7. doi: 10.1089/109065703322537278.

Abstract

In this study, we describe a pentaplex PCR to determine the parental origin of the X chromosome and the presence of mosaicism, via amplification of four polymorphic markers located along the X chromosome (DXS10011, DXS6807, HUMARA, DXS101) and the X-Y amelogenin marker, in 41 families having a daughter with Turner Syndrome. Our results confirmed the cytogenetic findings and we found that the parental origin of the single X chromosome to be maternal in 84% of cases.

MeSH terms

  • Adult
  • Amelogenin
  • Child
  • Child, Preschool
  • Chromosomes, Human, X*
  • Chromosomes, Human, Y*
  • Dental Enamel Proteins / genetics
  • Family
  • Female
  • Genetic Markers
  • Humans
  • Mosaicism
  • Polymerase Chain Reaction / methods*
  • Polymorphism, Genetic
  • Sex Chromosome Aberrations
  • Turner Syndrome / genetics*

Substances

  • Amelogenin
  • Dental Enamel Proteins
  • Genetic Markers