XX/XY chimerism encountered during prenatal diagnosis
Related Experiment Video
Updated: Oct 13, 2026
07:42
Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
A S Freiberg1, B Blumberg, H Lawce
1Department of Pediatrics, Kaiser Permanente Medical Centers, San Francisco, California.
Prenatal Diagnosis
|July 1, 1988
Abstract:
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.
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