Prenatal diagnosis of 45,X/46,XY mosaicism in a fetus with asymmetric gonadal dysgenesis |
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| Authors: | Dr A J Kirkilionis P Rodney F R Sergovich R Armstrong |
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| Institution: | 1. Department of Anatomy, University of Western Ontario, London, Ontario, Canada;2. Department of Pediatrics, Children's Psychiatric Research Institute, London, Ontario, Canada;3. Department of Pathology, Victoria Hospital, London, Ontario, Canada |
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| Abstract: | 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. |
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| Keywords: | 45 X/46 XY Prenatal diagnosis Asymmetric gonadal dysgenesis |
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