Chromosomenmosaik C-Trisomie/normal

A chromosome mosaic with C-trisomy/normal is described in which the trisomic cells comprise approximately 24% (fascia lata). Sex-chromatin examined from fibroblasts was consistently absent; the additional C-chromosome is thought to be an autosome. Clinical data: Prematurely born male (hydramnion) with hypertelorism, micrognathia, macrocephalia, dysplasia of the pinnae, and cryptorchism; suspected congenital heart disease, collodion skin, increasing edema with hypernatriaemia and hyperchloraemia. Death on 9^th day; autopsy refused.