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Article

Familial Turner Syndrome With Distinct Karyotypes in Two Cousins: Phenotypic Convergence and Genotypic Heterogeneity.

The American journal of case reports - 11 May 2026

Zeng Weiwei, Lin Sheng, Zheng Junge, Zheng Zheng, Li Cunhai, Yang Guihua, Yao Jilong, Duan Shan

Abstract excerpt

BACKGROUND Familial Turner syndrome (TS) is an uncommon sex chromosome abnormality, typically characterized by the transmission of identical X-chromosomal aberrations (eg, partial or complete deletions) within a lineage. The occurrence of familial TS involving distinct karyotypes within the same generation is exceptionally rare and presents unique challenges for genetic counseling and mechanistic understanding....

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Identifiers

PMID: 42108647
DOI: 10.12659/AJCR.951645
PMCID: PMC13179693

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