Case details 45,X/46,XX mosaicism and SHOX deletion linked to neuro risks, highlighting the need for multidisciplinary management.
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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Jiang et al. (2025) studied this question.
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