XX/XY chimerism encountered during prenatal diagnosis

Prenat Diagn. 1988 Jul;8(6):423-6. doi: 10.1002/pd.1970080606.


46,XX/46,XY chimerism has previously been reported in patients with abnormal sexual development, and rarely in otherwise normal individuals. We report the first postnatally documented prenatal diagnosis of whole-body 46,XX/46,XY chimerism in humans, discovered by maternal age amniocentesis. The normal male phenotype in this child creates a dilemma in prenatal counselling, since genotypic male/female chimerism cannot be assumed to imply an abnormal sexual phenotype.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amniocentesis
  • Chimera*
  • Disorders of Sex Development / diagnosis*
  • Female
  • Humans
  • Male
  • Pregnancy
  • Prenatal Diagnosis*
  • Sex Chromosome Aberrations / diagnosis*
  • X Chromosome / pathology*
  • X Chromosome / ultrastructure
  • Y Chromosome / pathology*
  • Y Chromosome / ultrastructure