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Research Article
Evidence for a cryptic 46,XX cell line in a 45,X/46,X,psu idic(Xq) patient with normal reproduction.
  1. R S James,
  2. A J Sharp,
  3. A E Cockwell,
  4. B Coppin,
  5. P A Jacobs
  1. Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.

    Abstract

    Gonadal dysgenesis resulting in primary infertility is one of the most common features of Turner syndrome. There have been a number of cases described of pregnancy in 45,X subjects, but whether or not the fertility is associated with a 46,XX cell line in the germ cells is not known. We describe a 45,X/46,X,psu idic(Xq) female with normal fertility, in whom a cryptic 46,XX cell line was found in the germ cells.

    https://doi.org/10.1136/jmg.34.12.1030

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