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J Med Genet. 1984 Jun;21(3):228-30.

Mosaic hexasomy 21.

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.

PMID:
6748023
[PubMed - indexed for MEDLINE]
PMCID:
PMC1049275
Free PMC Article
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