Article

Rare Mosaic Chromosomal Alterations with Unique Clinical Manifestations Among Swyer Syndrome Females

2026-08-04

Abstract excerpt

Background Swyer syndrome is typically characterized by a 46,XY karyotype in females with complete gonadal dysgenesis. Mosaic chromosomal constitutions are associated with marked phenotypic variability, posing challenges in diagnosis and clinical management. Variable gonadal differentiation and the presence of Y chromosome significantly increase the risk of gonadal germ cell tumors, highlighting the importance of...

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Literature Corpus work: 6227b5f1-10cb-51d3-8f4e-ca2556473f5b
DOI: 10.38124/ijisrt/26jul1692

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