Turner Syndrome With 45,X/46,XX Mosaicism and a Derivative X Chromosome (Xqter → Xq13?::Xp11.4 → Xqter): A Case Report
Chinese female with 45,X/46,XX mosaicism and der(X) (Xqter → Xq13?::Xp11.4 → Xqter). <i>SHOX</i> deletion (41.25 Mb) and <i>PLP1</i> 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.
Authors
- Xinyi Xia (ORCID: https://orcid.org/0000-0002-7178-0505)
- Zhipeng Xu (ORCID: https://orcid.org/0000-0002-2187-9427)
- Qiuyue Wu (ORCID: https://orcid.org/0000-0003-2813-103X)
- Tingting Ji (ORCID: https://orcid.org/0000-0002-6674-3072)
- Weijun Jiang
Institutions
- Soochow University (CN)
- Second Affiliated Hospital of Soochow University (CN)
- Second Affiliated Hospital of Nanjing Medical University (CN)
- Jinling Institute of Technology (CN)
- Nanjing Medical University (CN)
- Nanjing University (CN)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2025-09-28
- DOI
- https://doi.org/10.1002/ccr3.70981
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China