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Article

Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype.

The Journal of pediatrics - 1 Sept 2009

Girardin C M, Deal C, Lemyre E, Paquette J, Lumbroso R, Beitel L K, Trifiro M A, Van Vliet G

Abstract excerpt

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.

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Share to Androgen-Insensitivity Syndrome
Share to Child, Preschool
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Carrier Screening

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Share to Receptors, Androgen

Source

Identifiers

PMID: 19732585
DOI: 10.1016/j.jpeds.2009.02.052

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19732585-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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