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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

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اقرأ أكثر حفظ في قائمتي
  • معلومة اضافية
    • بيانات النشر:
      Wiley, 2025.
    • الموضوع:
      2025
    • Collection:
      LCC:Medicine
      LCC:Medicine (General)
    • نبذة مختصرة :
      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.
    • File Description:
      electronic resource
    • ISSN:
      2050-0904
    • Relation:
      https://doaj.org/toc/2050-0904
    • الرقم المعرف:
      10.1002/ccr3.70981
    • الرقم المعرف:
      edsdoj.794f7bef5c4f471fb31f4d68c1169e2d