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An isodicentric X chromosome with gonadal dysgenesis in a lady without prominent somatic features of Turner's syndrome. A case report
2015
Journal of the Formosan Medical Association
KEYWORDS gonadal dysgenesis; phenotype; Turner's syndrome Isodicentric X chromosomes in general have phenotypes characteristic of the resultant X deletions. Gonadotropin levels in Turner's syndrome (TS) girls are high, but have a normal biphasic pattern. Here, we report a 21-year-old lady with primary amenorrhea. Clinical examination revealed a short neck but no other typical stigmata of Turner's syndrome. The levels of gonadotropin were not raised to post-menopausal levels. A chromosome study
doi:10.1016/j.jfma.2011.05.011
pmid:25618587
fatcat:brad7xawqzao7pfr5dfugcnbn4