Article Text

Download PDFPDF
Analysis of the origin of Turner's syndrome using polymorphic DNA probes.
  1. S A Loughlin,
  2. A Redha,
  3. J McIver,
  4. E Boyd,
  5. A Carothers,
  6. J M Connor
  1. University Department of Medical Genetics, Duncan Guthrie Institute, Yorkhill, Glasgow.


    Thirty-four families with a child or fetus with Turner's syndrome were studied using a series of polymorphic DNA probes. Analysis of the origin of the normal X chromosome was possible in all cases. In 16 families with 45,X (four fetuses and 12 livebirths), the observed X was maternal in each case, indicating a preferential loss of the paternal sex chromosome at, or before, conception. In the remaining 18 families with a variety of karyotypes, but especially in those where the child had an isochromosome of Xq or a ring X, there was again a strong tendency for the normal X to be maternal. Analysis of parental ages was performed with known origin of each abnormality, but no evidence for an increased or decreased parental age effect was detected.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.