title: A case of ambiguous genitalia presenting with a 45,X/46,Xr(Y)(p11.2;q11.23)/47,X,idic(Y)(p11.2),idic(Y)(p11.2) karyotype.
abstract: An infant with ambiguous genitalia was found to have a karyotype 45,X/46,X,r(Y)(p11.2;q11.23)/47,X,idic(Y)(p11.2),idic(Y)(p11.2) using G-banding, C-banding and FISH. Examination of the genitalia revealed a phallus measuring 1.5 cm in length and 0.5 cm wide with perineal orifice. Subtle phenotypic features consistent with Turner syndrome were not present. Genital ultrasonography revealed the presence of an infantile uterus. Endoscopy of the vagina, uterus and cervix appeared normal.
authors.affiliation: Erciyes University, School of Medicine, Depatment of Medical Genetics, 38039, Kayseri, Turkey
authors.forename: M
authors.initials: M
authors.lastname: Dundar
authors.forename: G
authors.initials: G
authors.lastname: Lowther
authors.forename: H
authors.initials: H
authors.lastname: Acar
authors.forename: S
authors.initials: S
authors.lastname: Kurtoglu
authors.forename: F
authors.initials: F
authors.lastname: Demiryilmaz
authors.forename: M
authors.initials: M
authors.lastname: Kucukaydin
mesh_terms: D000293:Adolescent; D000328:Adult; D002871:Chromosome Banding; D002987:Clitoris / Q000601:surgery; D003241:Consanguinity; D005260:Female; D005836:Genitalia, Female / Q000033:anatomy & histology* / Q000000981:diagnostic imaging; D006552:Hernia, Inguinal / Q000601:surgery; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014463:Ultrasonography; D014960:X Chromosome; D014998:Y Chromosome