You are here

Article Text

Article menu
Download PDFPDF
Research Article
Second polar body incorporation into a blastomere results in 46,XX/69,XXX mixoploidy.
  1. U Müller,
  2. J L Weber,
  3. P Berry,
  4. K G Kupke
  1. Institut für Humangenetik, Justus-Liebig-Universität Giessen, Germany.

    Abstract

    A case of 46,XX/69,XXX mixoploidy is described. The patient had a normal 46,XX diploid karyotype in lymphocytes but a triploid 69,XXX cell line in most of her fibroblasts. In order to learn more about the underlying mechanism resulting in mixoploidy, we studied short tandem repeat polymorphisms (STRPs) in lymphocyte DNA of the patient's parents and in both lymphocyte and fibroblast DNA of the proband. The findings showed maternal origin of the supernumerary chromosome complement and are best explained by second polar body incorporation into a blastomere.

    https://doi.org/10.1136/jmg.30.7.597

    Statistics from Altmetric.com

      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.