title: Tall stature, gonadal dysgenesis, and stigmata of Turner's syndrome caused by a structurally altered X chromosome.
abstract: Genetic analysis in a tall 14-year-old girl with gonadal dysgenesis and some stigmata of Turner's syndrome revealed a duplication of the short arm in a monocentric X chromosome with partial loss of Xq. We suggest that triple gene dosage of SHOX and estrogen deficiency caused the unique overgrowth.
authors.affiliation: University-Children's Hospital and Growth Research Center, Tübingen, Germany.
authors.forename: G
authors.initials: G
authors.lastname: Binder
authors.forename: T
authors.initials: T
authors.lastname: Eggermann
authors.forename: H
authors.initials: H
authors.lastname: Enders
authors.forename: M B
authors.initials: MB
authors.lastname: Ranke
authors.forename: A
authors.initials: A
authors.lastname: Dufke
mesh_terms: D000293:Adolescent; D001827:Body Height; D002871:Chromosome Banding; D005260:Female; D006801:Humans; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome