Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype.
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.
Girardin
C M
CM
Endocrinology, CHU Sainte-Justine and Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.
Deal
C
C
Lemyre
E
E
Paquette
J
J
Lumbroso
R
R
Beitel
L K
LK
Trifiro
M A
MA
Van Vliet
G
G
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*
D011944:Receptors, Androgen; D004247:DNA