Mosaic hexasomy 21.
- 1 June 1984
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 21 (3) , 228-230
- https://doi.org/10.1136/jmg.21.3.228
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.Keywords
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