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Research Article
Gonadal dysgenesis in a patient with an X;3 translocation: case report and review.
  1. N J Carpenter,
  2. B Say,
  3. D Browning

    Abstract

    A patient with primary amenorrhoea and absence of secondary sex characteristics was found to have a balanced X;3 translocation. This phenotype is reported in approximately one-third of the balanced X;autosome translocation cases. The normal X chromosome is inactive in the present case which is in agreement with most of the similar cases. A review of the 66 balanced X;autosome translocations reported to date is presented.

    https://doi.org/10.1136/jmg.17.3.216

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