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Article

45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.

American journal of medical genetics. Part A - 1 Mar 2024

Alkhunaizi Ebba, Albrecht Jenna Plamondon, Aarabi Mahmoud, Witchel Selma F, Wherrett Diane, Babul-Hirji Riyana, Dupuis Annie, Chiniara Lyne, Chater-Diehl Eric, Shago Mary, Shuman Cheryl, Rajkovic Aleksandar, Yatsenko Svetlana A, Chitayat David

Abstract excerpt

45,X/46,XY chromosomal mosaicism presents a range of clinical manifestations, including phenotypes from Turner syndrome through genital abnormalities to apparently unaffected phenotypic males; however, the full clinical spectrum has not yet been fully delineated since prior studies on the clinical phenotype and associated risk of gonadal tumors included small cohorts and limited follow-up. To better describe the...

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Identifiers

PMID: 37882230
DOI: 10.1002/ajmg.a.63451

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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