title: A further 46,XYp- female.
abstract: A 24-year-old female with a Swyer syndrome phenotype was found to have a 46,X,del (Y) (p11) karyotype. This observation is consistent with the recently confirmed assignment of the testis-determining master gene to the deletion interval 1A of the Y (Page et al., 1987). Otherwise, it illustrates the etiological heterogeneity of the Swyer phenotype and allows to emphasize the de novo origin of XYp-females.
authors.affiliation: División de Genética, Subjefatura de Investigación Científica, Hospital de Especialidades, Guadalajara, Mexico.
authors.forename: H
authors.initials: H
authors.lastname: Rivera
authors.forename: M
authors.initials: M
authors.lastname: Moller
authors.forename: L M
authors.initials: LM
authors.lastname: Baltazar
authors.forename: A
authors.initials: A
authors.lastname: Escalante-Herrera
authors.forename: D
authors.initials: D
authors.lastname: Garcia-Cruz
mesh_terms: D002872:Chromosome Deletion; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D006801:Humans; D012729:Sex Chromosome Aberrations; D014998:Y Chromosome / Q000648:ultrastructure*