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Why are some patients with 45,X Turner syndrome fertile? A young girl with classical 45,X Turner syndrome and a cryptic mosaicism in the ovary

17 Dec 2020

Abstract excerpt

OBJECTIVE: To report a case of a young girl initially diagnosed with exclusively 45,X Turner syndrome (TS), but with a cryptic mosaicism in the ovary. DESIGN: Case report. SETTING: Radboud University Medical Center in the Netherlands. PATIENT(S): A 14-year-old girl with TS showing an exclusively 45,X cell line in lymphocytes, buccal cells, and urine cells in the presence of ovarian follicles. INTERVENTION(S):...

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PMID: 33342535
DOI: 10.1016/j.fertnstert.2020.11.006

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