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Article

True hermaphroditism with ambiguous genitalia due to a complicated mosaic karyotype: Clinical features, cytogenetic findings, and literature review

19 Sept 2002

Abstract excerpt

Abnormal recombination between the X and Y chromosomes during meiosis, occurring outside the pseudoautosomal region, can result in translocation of the SRY gene from the Y to the X chromosome, and consequently in abnormal sexual differentiation, such as the development of 46,XX males or true hermaphroditism. In this report we present clinical, cytogenetic, and molecular-cytogenetic data of a patient with...

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PMID: 12503111
DOI: 10.1002/ajmg.a.10869

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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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