一名患有完全性雄激素不敏感且核型为47,XXY的患者的分子研究。
Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype.
作者信息
Girardin C M, Deal C, Lemyre E, Paquette J, Lumbroso R, Beitel L K, Trifiro M A, Van Vliet G
机构信息
Endocrinology, CHU Sainte-Justine and Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.
出版信息
J Pediatr. 2009 Sep;155(3):439-43. doi: 10.1016/j.jpeds.2009.02.052.
PMID: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.
摘要
一名因雄激素受体母系遗传突变而具有完全雄激素不敏感的表型女性，其核型为47,XXY。部分母源X染色体等二体解释了尽管存在两条X染色体但仍出现雄激素不敏感的表现。
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