Turner/Down mosaicism. A case report.
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.
Jansen
S
S
Department of Neurology, University of the Orange Free State, Bloemfontein, R.S.A.
Kruger
A J
AJ
Liebenberg
G
G
D002648:Child; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D009030:Mosaicism / Q000235:genetics*; D014424:Turner Syndrome / Q000235:genetics*