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Mosaic hexasomy 21.
  1. A Ketupånyå,
  2. B F Crandåll,
  3. K Blanchard,
  4. D W Rogers

    Abstract

    Cases in which there are more than three copies of a sex chromosome, and rarely of an autosome, have been reported, but to our knowledge hexasomy has never been described except in tissue undergoing neoplastic change. This report describes a female infant with multiple malformations in whom we found a mosaic hexasomy 21. This was first detected in amniotic fluid cells and subsequently in skin fibroblasts.

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