Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 19732585.
- Also identified by DOI 10.1016/j.jpeds.2009.02.052.
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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.
Medical subject headings
- Androgen-Insensitivity Syndrome
- Chromosomes, Human, X
- Sex Chromosome Disorders