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Article

A Case of 45,X/46,XY Mosaicism Presenting as Swyer Syndrome.

Journal of pediatric and adolescent gynecology - 1 Oct 2020

Chand Momal T, Turner Stefanie, Solomon Leigh Ann, Jay Allison, Rabah Raja, Misra Vinod K

Abstract excerpt

BACKGROUND: Swyer syndrome is a difference of sex development that is typically associated with mutations in genes responsible for testicular development. It is speculated that some cases may result from cryptic 45,X/46,XY mosaicism leading to abnormal gonadal development. The presence or absence of a 45,X lineage is important for prognosis and management. CASE: We present a case of apparent Swyer syndrome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 32565348
DOI: 10.1016/j.jpag.2020.06.008

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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