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Article

Complete androgen insensitivity syndrome due to X chromosome inversion: A clinical report

10 Feb 2003

Abstract excerpt

We have studied a patient with complete androgen insensitivity syndrome (CAIS) and a 46, inv(X),Y karyotype. The patient's mother and maternal aunt also carry the inverted X, and the mother is phenotypically normal, with a 46, inv(X),X karyotype, while a maternal aunt has CAIS with a 46,inv(X),Y karyotype. Molecular cytogenetic studies demonstrate that one of the X inversion breakpoints occurs within Xq11.2-12,...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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PMID: 12838569
DOI: 10.1002/ajmg.a.20043

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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