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Prenat Diagn. 2001 Oct;21(10):839-41.

Semilobar holoprosencephaly in a 46,XY female fetus.

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1
Department of Obstetrics and Gynecology, 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.

PMID:
11746125
[Indexed for MEDLINE]
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