Prenatal diagnosis of 46,XY/46,XX mosaicism: a case report

Am J Med Genet. 1999 May 7;84(1):12-4.


We report on the prenatal diagnosis of a fetus with 46,XY and 46,XX cell lines with a normal male phenotype. Cytogenetic and molecular studies ruled out the possibility of maternal cell contamination and showed that all the X chromosomes present in both fetal cell lines were derived from a single maternal X chromosome. This suggests 46,XY/46,XX mosaicism.

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Apolipoproteins B / genetics
  • Chimera / genetics
  • Fetus / metabolism
  • Humans
  • Male
  • Meiosis / genetics
  • Minisatellite Repeats / genetics
  • Mitosis / genetics
  • Mosaicism / genetics*
  • Phenotype
  • Polymerase Chain Reaction
  • Prenatal Diagnosis*
  • Sex Characteristics
  • Sex Chromosomes / genetics*


  • Apolipoproteins B