Molecular Studies of a Patient with Complete Androgen Insensitivity and a 47,XXY Karyotype

被引：15

作者：

Girardin, C. M.

Deal, C.

Lemyre, E. ^{[2
]}

Paquette, J.

Lumbroso, R. ^{[3
,4
]}

Beitel, L. K. ^{[3
,4
]}

Trifiro, M. A. ^{[3
,4
]}

Van Vliet, G. ^{[1
]}

机构：

[1] CHU St Justine, Res Ctr, Serv Endocrinol, Montreal, PQ H3T 1C5, Canada

[2] CHU St Justine, Genet Serv, Montreal, PQ H3T 1C5, Canada

[3] McGill Univ, Jewish Gen Hosp, Lady Davis Inst SMBD, Montreal, PQ H3T 1E2, Canada

[4] McGill Univ, Dept Med, Montreal, PQ H3T 1E2, Canada

来源：

JOURNAL OF PEDIATRICS | 2009年 / 155卷 / 03期

关键词：

TESTICULAR FEMINIZATION; KLINEFELTERS-SYNDROME; RECEPTOR GENE; X-CHROMOSOME; MUTATIONS; CLONING; XXY;

D O I：

10.1016/j.jpeds.2009.02.052

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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. (J Pediatr 2009; 155:439-43)

引用

页码：439 / 443

页数：5

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