title: Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe.
abstract: The relationship between Y-chromosome abnormalities and gonadal differentiation was investigated in six phenotypic females with a 46,XY karyotype and one patient with ambiguous genitalia secondary to apparently nonmosaic 46,XY mixed gonadal dysgenesis. No alterations were found in the Y chromosomes of six of these individuals by the use of either cytogenetic or molecular techniques. Cytogenetic analysis with high-resolution G-banding and Q-banding revealed a small deletion in the short arm of the Y chromosome in one female patient with some features of Turner syndrome. Southern hybridization with Y-specific probes showed a loss of DNA within deletion intervals 1, 2, and 3 of the Y chromosome. A new Y-chromosome-specific DNA probe that hybridizes to deletion interval 3 is described.
authors.affiliation: Department of Pathology, University of Washington, Seattle 98195.
authors.forename: M A
authors.initials: MA
authors.lastname: Cantrell
authors.forename: J N
authors.initials: JN
authors.lastname: Bicknell
authors.forename: R A
authors.initials: RA
authors.lastname: Pagon
authors.forename: D C
authors.initials: DC
authors.lastname: Page
authors.forename: D C
authors.initials: DC
authors.lastname: Walker
authors.forename: H M
authors.initials: HM
authors.lastname: Saal
authors.forename: A B
authors.initials: AB
authors.lastname: Zinn
authors.forename: C M
authors.initials: CM
authors.lastname: Disteche
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D015139:Blotting, Southern; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D015342:DNA Probes; D005260:Female; D005819:Genetic Markers; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D014998:Y Chromosome
chemical_list: D015342:DNA Probes; D005819:Genetic Markers