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September 29, 2025Open Access

Turner Syndrome With 45,X/46,XX Mosaicism and a Derivative X Chromosome (Xqter → Xq13?::Xp11.4 → Xqter): A Case Report

Key Points

Management includes hormone therapy and cardiac monitoring to improve health outcomes in affected individuals.
Karyotyping and microarray analysis revealed cryptic X‐chromosome rearrangements, aiding in precise diagnosis.
A significant SHOX deletion was identified, which is linked to potential risks in growth and neurological development.
Effective fertility counseling is crucial for individuals with complex cases of Turner syndrome.

Abstract

ABSTRACT Chinese female with 45,X/46,XX mosaicism and der(X) (Xqter → Xq13?::Xp11.4 → Xqter). SHOX deletion (41.25 Mb) and PLP1 duplication (111.4 Mb) linked to growth/neuro risks. Integrated karyotyping, MLPA, microarray, and STR analysis revealed cryptic X‐chromosome rearrangements, guiding precise breakpoint mapping. Multidisciplinary management (hormone therapy, cardiac monitoring, fertility counseling) is essential for optimizing outcomes in complex TS cases.

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Authors

Weijun Jiang

Second Affiliated Hospital of Nanjing Medical University

Tingting Ji

Nanjing University of Chinese Medicine

Qiuyue Wu

Suzhou University of Science and Technology

Journals

Clinical Case Reports

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Institutions

Nanjing University

Soochow University

Southern Medical University

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Turner Syndrome With 45,X/46,XX Mosaicism and a Derivative X Chromosome (Xqter → Xq13?::Xp11.4 → Xqter): A Case Report

Key Points

Abstract

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