Main Article Content

Turner/Down mosaicism: A case report


S Jansen
A.J. Kruger
G Liebenberg

Abstract

A 45,X/47,XX, +21 mosaicism (80%:20%) in a young girl with clinical features of Down syndrome is reported. The proportion of 45,X:47,XX, +21 cells present in peripheral lymphocytes does not necessarily have a profound effect on the phenotype. A possible explanation for the occurrence of double aneuploidy is given.


Journal Identifiers


eISSN: 2078-5135
print ISSN: 0256-9574