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Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype.
Girardin, C M; Deal, C; Lemyre, E; Paquette, J; Lumbroso, R; Beitel, L K; Trifiro, M A; Van Vliet, G.
J Pediatr ; 155(3): 439-43, 2009 Sep.
Article in English | MEDLINE | ID: mdl-19732585

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.


Subject(s)
Androgen-Insensitivity Syndrome/genetics , Chromosomes, Human, X/genetics , Sex Chromosome Disorders/genetics , Androgen-Insensitivity Syndrome/diagnosis , Base Sequence , Child, Preschool , DNA/genetics , Female , Genetic Carrier Screening/methods , Humans , Karyotyping , Male , Molecular Sequence Data , Mutation , Pedigree , Polymorphism, Genetic , Receptors, Androgen/genetics , Sex Chromosome Disorders/diagnosis
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