title: Prenatal diagnosis of 46, XX male fetus.
abstract: Prenatal diagnosis of sex differentiation disorders is extremely rare and is estimated in 1/2500 analyzed gestations. A group of this disorders are the 46, XX males and its incidence is estimated in 1/20000 male neonates. We report a male XX fetus in which the diagnosis of sex determination was requested at 20 gestation weeks to clarify the real gender of the fetus. Discrepancy between cytogenetic and ultrasonographic was detected.
authors.affiliation: Department of Genetics, Fundación Jiménez Díaz, Madrid, Spain. mjtrujillo@fjd.es
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo-Tiebas
authors.forename: C
authors.initials: C
authors.lastname: González-González
authors.forename: I
authors.initials: I
authors.lastname: Lorda-Sánchez
authors.forename: M E
authors.initials: ME
authors.lastname: Querejeta
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
authors.forename: C
authors.initials: C
authors.lastname: Ramos
mesh_terms: D053523:Amelogenin; D041321:Chromosomes, Human, X / Q000235:genetics; D003746:Dental Enamel Proteins / Q000235:genetics; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005333:Fetus; D005837:Genitalia, Male / Q000000981:diagnostic imaging; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D051876:Sex-Determining Region Y Protein / Q000235:genetics; D016216:Ultrasonography, Prenatal
chemical_list: D053523:Amelogenin; D003746:Dental Enamel Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein