title: Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype.
abstract: A phenotypic female with complete androgen insensitivity from a maternally inherited mutation in the androgen receptor had a 47,XXY karyotype. Partial maternal X isodisomy explained the expression of androgen insensitivity despite the presence of 2 X chromosomes.
authors.affiliation: Endocrinology, CHU Sainte-Justine and Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.
authors.forename: C M
authors.initials: CM
authors.lastname: Girardin
authors.forename: C
authors.initials: C
authors.lastname: Deal
authors.forename: E
authors.initials: E
authors.lastname: Lemyre
authors.forename: J
authors.initials: J
authors.lastname: Paquette
authors.forename: R
authors.initials: R
authors.lastname: Lumbroso
authors.forename: L K
authors.initials: LK
authors.lastname: Beitel
authors.forename: M A
authors.initials: MA
authors.lastname: Trifiro
authors.forename: G
authors.initials: G
authors.lastname: Van Vliet
mesh_terms: D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D006801:Humans; D007621:Karyotyping; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D011944:Receptors, Androgen / Q000235:genetics; D025064:Sex Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*
chemical_list: D011944:Receptors, Androgen; D004247:DNA