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Mosaic hexasomy 21.

Authors
Journal
Journal of Medical Genetics
0022-2593
Publisher
BMJ
Publication Date
Keywords
  • Research Article

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. Images

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