XX/XY chimerism encountered during prenatal diagnosis.
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.
Freiberg
A S
AS
Department of Pediatrics, Kaiser Permanente Medical Centers, San Francisco, California.
Blumberg
B
B
Lawce
H
H
Mann
J
J
D000328:Adult; D000649:Amniocentesis; D002678:Chimera; D012734:Disorders of Sex Development / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D014960:X Chromosome / Q000473:pathology* / Q000648:ultrastructure; D014998:Y Chromosome / Q000473:pathology* / Q000648:ultrastructure