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). 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.