title: Sex reversal in a child with duplication of sex reversing locus on the short arm of the X chromosome (Xp).
abstract: We report a child with a female phenotype possessing a karyotype of 46,XY,13p+. The child had female external genitalia, and manifested severe mental retardation, pulmonary atresia and multiple congenital abnormalities. Laparoscopy revealed the presence of streak gonads and Müllerian structures. Histological examination of the gonads showed ovarian-like stroma with immature seminiferous tubules. Chromosome and gene analyses demonstrated Xp11.23 (or 11.3)-pter duplication and an intact sex determinating factor of Y (SRY). The findings of this case suggest that duplication of Xp causes sex reversal in the presence of SRY.
authors.affiliation: Department of Pediatrics, Ehime University School of Medicine, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Ito
authors.forename: Y
authors.initials: Y
authors.lastname: Kaino
authors.forename: H
authors.initials: H
authors.lastname: Hirai
authors.forename: K
authors.initials: K
authors.lastname: Kida
authors.forename: Y
authors.initials: Y
authors.lastname: Nakahori
authors.forename: Y
authors.initials: Y
authors.lastname: Nakagome
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics; D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D005260:Female; D005835:Genitalia / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D005810:Multigene Family; D009687:Nuclear Proteins; D010053:Ovary / Q000473:pathology; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012671:Seminiferous Tubules / Q000473:pathology; D012729:Sex Chromosome Aberrations; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014960:X Chromosome
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors