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Enzymes in Cultivated Human Fibroblasts derived from Patients with Down's Syndrome (Mongolism)

Nature volume 213, pages 1261–1262 (1967)Cite this article

Abstract

FORTY-SEVEN chromosomes have been found in cells of children with Down's syndrome1. The extra chromosome, a small acrocentric, is believed to be either number 21 or 221–3. The finding of larger concentrations of alkaline phosphatase in leucocytes of patients with Down's syndrome4–6 suggested that the gene determining the enzyme is located on the chromosome associated with mongolism. Increased concentrations of whole blood and leucocyte galactose-1-phosphate uridyl transferase7–12, erythrocyte and leucocyte glucose-6-phosphate dehydrogenase9–12, leucocyte acid phosphatase9,12, blood galactokinase10,13, erythrocyte phosphohexokinase14 and leucocyte 5-nucleo-tidase12 have been reported. On the other hand, no increase of glucose-6-phosphate dehydrogenase or acid phosphatase could be detected in the platelets of patients with Down's syndrome15.

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Authors and Affiliations

  1. Genetic Clinic, Children's Memorial Hospital,

    H. L. NADLER, T. INOUYE, P. JUSTICE & D. Y. Y. HSIA

  2. Department of Paediatrics, Northwestern University Medical School, Chicago, Illinois

    H. L. NADLER, T. INOUYE, P. JUSTICE & D. Y. Y. HSIA

Authors
  1. H. L. NADLER
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  2. T. INOUYE
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  3. P. JUSTICE
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  4. D. Y. Y. HSIA
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NADLER, H., INOUYE, T., JUSTICE, P. et al. Enzymes in Cultivated Human Fibroblasts derived from Patients with Down's Syndrome (Mongolism). Nature 213, 1261–1262 (1967). https://doi.org/10.1038/2131261a0

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