XX/XY chimerism encountered during prenatal diagnosis

Andrew Freiberg, B. Blumberg, H. Lawce, J. Mann

Research output: Contribution to journalArticlepeer-review

23 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)423-426
Number of pages4
JournalPrenatal Diagnosis
Issue number6
StatePublished - Jul 1988

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynecology
  • Genetics(clinical)


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