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Research Article
An isodicentric X chromosome with short arm fusion in a woman without somatic features of Turner's syndrome.
  1. I C Barnes,
  2. D J Curtis,
  3. S L Duncan

    Abstract

    A 25 year old woman with gonadal dysgenesis but no other somatic features of Turner's syndrome was found to have a 45,X/46,XidicX(p22.3) karyotype. It is postulated that because her stature is within the normal range there has been no loss of genetic material in the fusion of the two Xs. Her mother, who also had a history of menstrual problems, was found to be a 46,XX/47,XXX mosaic.

    https://doi.org/10.1136/jmg.24.7.428

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