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Prenatal diagnosis of 45,X/46,XY mosaicism in a fetus with asymmetric gonadal dysgenesis
Author(s) -
Kirkilionis A. J.,
Rodney P.,
Sergovich F. R.,
Armstrong R.
Publication year - 1987
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.1970070708
Subject(s) - horseshoe kidney , gonadal dysgenesis , fetus , dysgenesis , hypospadias , prenatal diagnosis , phenotype , biology , medicine , pregnancy , genetics , endocrinology , kidney , gene
An 18 week abortus had been prenatally diagnosed as a 45,X/46,XY mosaic. The fetus was a phenotypic male with glandular hypospadias, a horseshoe kidney and asymmetric gonadal dysgenesis. This case represents a rare instance of prenatally diagnosed 45,X/46,XY mosaicism with an abnormal phenotype.