title: Y chromosome specific DNA probe in the diagnosis of a patient with mos 45,X/46,XYnf.
abstract: In a patient with mos 45,X/46,XYnf, the diagnosis was confirmed with a Y chromosome-specific DNA probe, Y-190. The patient was a phenotypic female without Turner syndrome stigmata other than short stature. She showed some evidence of virilization and high serum testosterone. Her peripheral blood karyotype was mos 45,X/46X, +mar. Although this marker chromosome resembled a Y chromosome, there was no quinacrine bright region on its long arm. Southern blot analysis of her peripheral blood mononuclear cell DNA with Y-190 as a probe showed strong hybridization with this probe. Gonadectomy was performed, and bilateral gonadoblastomas were found.
authors.forename: T
authors.initials: T
authors.lastname: Yorifuji
authors.forename: T
authors.initials: T
authors.lastname: Momoi
authors.forename: T
authors.initials: T
authors.lastname: Sonomura
authors.forename: C
authors.initials: C
authors.lastname: Yamanaka
authors.forename: M
authors.initials: M
authors.lastname: Kaji
authors.forename: H
authors.initials: H
authors.lastname: Mikawa
authors.forename: K
authors.initials: K
authors.lastname: Kitagawa
authors.forename: H
authors.initials: H
authors.lastname: Ozasa
authors.forename: S
authors.initials: S
authors.lastname: Tai
authors.forename: T
authors.initials: T
authors.lastname: Mori
mesh_terms: D000293:Adolescent; D015139:Blotting, Southern; D015342:DNA Probes; D005260:Female; D006801:Humans; D007564:Japan; D007621:Karyotyping; D009030:Mosaicism; D014424:Turner Syndrome / Q000175:diagnosis* / Q000235:genetics; D014998:Y Chromosome
chemical_list: D015342:DNA Probes