Semilobar holoprosencephaly in a 46,XY female fetus.
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.
Witters
I
I
Department of Obstetrics and Gynecology, University of Leuven, Leuven, Belgium.
Moerman
P
P
Muenke
M
M
Van Assche
F A
FA
Devriendt
K
K
Legius
E
E
Van Schoubroeck
D
D
Fryns
J P
JP
D000328:Adult; D012734:Disorders of Sex Development / Q000150:complications / Q000175:diagnosis; D005260:Female; D005865:Gestational Age; D016142:Holoprosencephaly / Q000150:complications / Q000000981:diagnostic imaging*; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D016216:Ultrasonography, Prenatal