Down's Syndrome

Abstract

This small volume represents a timely review of the history of mongolism from its establishment in 1866 as a syndrome by Langdon Down, of the clinical and cytogenetic findings in patients with the disorder, and of the experience gained with the new cytogenetic methods of identification at the Institute for Medical Genetics of the University of Uppsala. The author's investigations comprise 119 individuals. Of these, 62 had definite Down's syndrome; one half of them were selected because they had been born to relatively young mothers, because of familial repetition, or because of special clinical features. Fifty-seven of the patients examined were suspected of Down's syndrome, that is, the diagnosis on clinical grounds was not entirely certain. Of the 119 patients whose chromosomes were examined, 16 had apparently normal karyotypes, 94 conformed to the regular 21-trisomy pattern, two were mosaics, five were translocation types, and two had unusual cytogenetic patterns. An