20 years later.

Human genetics. Supplement Pub Date : 1981-01-01
J Lejeune
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Abstract

A systematic review of the biochemical troubles associated with Trisomy 21 lead to three constatations: 1) There must be an important perturbation of the oxygen metabolism (Excess of S.O.D.I. and of G.P.X.) 2) There is probably a shift in the regulation of non essential amino acids (Comparison with other forms of mental deficiencies) 3) In conformity with a general hypothesis, an abnormality of the monocarbon metabolism could be the consequence of 1) and 2) and could represent the actual cause of mental deficiency.

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20年后。
系统回顾与21三体相关的生化问题导致三种便秘:1)氧代谢一定受到了重要的干扰(S.O.D.I.和G.P.X.过量)2)非必需氨基酸的调节可能发生了变化(与其他形式的智力缺陷相比)3)根据一般假设,单碳代谢的异常可能是1)和2)的结果,并可能代表智力缺陷的实际原因。
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Malignant Hyperthermia: An Inherited Disorder of Muscle Calcium Metabolism Functional implications of gene dosage effects in trisomy 21. Asking for a prenatal diagnosis after the birth of a child with Down's syndrome. 20 years later. Trisomy 21. An international symposium. Rapallo, Italy, November 8-10, 1979.
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