title: De novo duplication xq22-q23 in a girl with short stature and gonadal dysgenesis.
abstract: A female of 20 years of age with short stature, gonadal dysgenesis and Turner stigmata with a de novo dup Xq22-q23 was studied. The maternal cytogenetic study was normal. This case represents the smallest Xq duplication in an abnormal female. We discuss the possibility of a maternal imprinting.
authors.affiliation: División de Genética, Universidad de Guadalajara, Jalisco, Mexico.
authors.forename: L
authors.initials: L
authors.lastname: Correa-Cerro
authors.forename: D
authors.initials: D
authors.lastname: Garcia-Cruz
authors.forename: M X
authors.initials: MX
authors.lastname: Ruiz
authors.forename: J
authors.initials: J
authors.lastname: Sanchez-Corona
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D005260:Female; D020440:Gene Duplication; D006801:Humans; D012729:Sex Chromosome Aberrations; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome