The Somatic Chromosomes in Mongolism

[摘要] Stimulated by the finding that patients with one form of human intersex (Klinefelter's syndrome) have cells containing 47 chromosomes (instead of the usual 46 characteristic of the normal), the finding of an abnormal number of chromosomes in one case of leukemia, and the reported association between mongolism and leukemia, the authors undertook to investigate the chromosomes in cases of mongolism by means of techniques developed in their laboratory. Somatic chromosomes were examined in six typical examples of mongolism, and in all six, the diploid number of chromosomes were found to be 47 rather than the 46 characteristic of normal persons. The findings suggest to the authors that the condition of mongolism is associated with the presence of an extra chromosome. This is of particular interest in considering the predisposition to leukemia considered to be characteristic of mongolism. This paper is one of several which have appeared on this topic in the recent literature and energetic application of this technique to many aberrations in human development can be anticipated. The objective of those seeking to explain the pathogenesis of mongolism will now shift from an analysis of the overall features to determining the reason for the abnormal number of chromosomes. The qualitative significance of differences from the normal pattern of chromosomes in the cell is certain to prove revealing.

[学科分类] 儿科学