Prenatal diagnosis of 45,X/46,XY mosaicism in a fetus with asymmetric gonadal dysgenesis.
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.
Kirkilionis
A J
AJ
Department of Anatomy, University of Western Ontario, London, Canada.
Rodney
P
P
Sergovich
F R
FR
Armstrong
R
R
D000032:Abortion, Therapeutic; D000328:Adult; D000649:Amniocentesis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006059:Gonadal Dysgenesis / Q000175:diagnosis*; D006060:Gonadal Dysgenesis, Mixed / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008423:Maternal Age; D009030:Mosaicism; D010641:Phenotype; D011247:Pregnancy; D018566:Pregnancy, High-Risk