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Semilobar holoprosencephaly in a 46,XY female fetus |
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| Authors: | Ingrid Witters Philippe Moerman Maximilian Muenke Frans-André Van Assche Koen Devriendt Eric Legius Dominique Van Schoubroeck Jean-Pierre Fryns |
| Institution: | 1. Department of Obstetrics and Gynecology, University of Leuven, Leuven, Belgium;2. Department of Pathology, University of Leuven, Leuven, Belgium;3. Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA;4. Center for Human Genetics, University of Leuven, Leuven, Belgium |
| Abstract: | We report the prenatal echographic diagnosis of holoprosencephaly (HPE) at 11 weeks' gestation. Fetopathological examination revealed an unusual variant of semilobar HPE with middle interhemispheric fusion associated with sex-reversal: 46,XY normal male karyotype, normal external and internal female genitalia and streak gonads. Copyright © 2001 John Wiley & Sons, Ltd. |
| Keywords: | CNS malformation holoprosencephaly sex-reversal prenatal diagnosis |