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SRY -positive 45,X/46,XY karyotype in a phenotypically Turner-like Chinese adolescent female with ovarian dysgerminoma and gonadoblastoma.

Jiahong ZhouPing ZhanYang ChengQing LuoLi ChaiLan YuanXidan ZhuJinbo Liu
Published in: Journal of pediatric endocrinology & metabolism : JPEM (2024)
This case emphasizes the probable correlation between Y chromosome microdeletions in gonadal tissue and the severity of the phenotype in patients with 45,X/46,XY mosaicism and highlights the importance of clinical genetic testing at the chromosomal and molecular level.
Keyphrases
  • copy number
  • young adults
  • mental health
  • growth hormone
  • childhood cancer
  • genome wide