An isodicentric X chromosome with gonadal dysgenesis in a lady without prominent somatic features of Turner's syndrome. A case report

Tse-Ya Yu, Huan-Sheng Lin, Pei-Lung Chen, Tien-Shang Huang
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
more » ... A chromosome study showed a 45,X/ 46,X,idic(X)(q22) karyotype. She was diagnosed as having Turner's syndrome.
doi:10.1016/j.jfma.2011.05.011 pmid:25618587 fatcat:brad7xawqzao7pfr5dfugcnbn4