The purpose of this study is to investigate the cytogenetic characteristics of the Down´s syndrome in Korea. For this study selected were the forty-eight patients with the Down´s syndrome, who were diagnosed by the chromosome analyses of the cultured peripheral blood lymphocytes, at the Cytogenetic Laboratory, Institute of Reproductive ´Medicine and Population, College of Medicine, Seoul National University, for the period of 4 years and 8 months from May 1971 through December 1975.
Among the 48 patients with the Down´s syndrome, 44(91.6%) had G-trisomy, 2(4.2%) had .mosaicism of normal and G-trisomic cell lines, and 1(2.1%) had D/G translocation. The remaining oone patient had both G-trisomy and D/D translocation, 46, XY, -D, -D, +t(Dq.Dq), +G. To the best knowledge of the authors this is a new type of chromosomal aberration in patient with the Down´s syndrome, ever reported in literatures.
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