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XX/XY chimerism encountered during prenatal diagnosis
Author(s) -
Freiberg A. S.,
Blumberg B.,
Lawce H.,
Mann J.
Publication year - 1988
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970080606
Subject(s) - amniocentesis , prenatal diagnosis , phenotype , medicine , pregnancy , fetus , gynecology , obstetrics , genetics , biology , gene
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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