Molecular Studies of a Patient with Complete Androgen Insensitivity and a 47,XXY Karyotype - 09/08/11
Doi : 10.1016/j.jpeds.2009.02.052
C.M. Girardin, MD a, C. Deal, PhD, MD a, E. Lemyre, MD b, J. Paquette, MSc a, R. Lumbroso, MSc c, L.K. Beitel, PhD c, M.A. Trifiro, MD c, G. Van Vliet, MD a, ⁎ 
a Endocrinology, CHU Sainte-Justine and Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada
b Genetics Services, CHU Sainte-Justine and Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada
c Lady Davis Institute SMBD-Jewish General Hospital and Department of Medicine, McGill University, Montreal, Quebec, Canada
Reprint requests: Dr Guy Van Vliet, Research Center, CHU Sainte-Justine, 3175 Côte Sainte-Catherine, Montreal, H3 T 1C5, Quebec, Canada.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.
Le texte complet de cet article est disponible en PDF.Mots-clés : AR, CAIS, KS
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| The authors declare no conflicts of interest. |
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Vol 155 - N° 3
P. 439-443 - septembre 2009 Retour au numéro
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