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Trisomy 21 pp 91-101 | Cite as

Vingt Ans Après

  • Jérôme Lejeune
Part of the Human Genetics Supplement book series (HUMAN GENETICS, volume 2)

Summary

A systematic review of the biochemical troubles associated with Trisomy 21 lead to three constatations

There must be an important perturbation of the oxygen metabolism (Excess of S.O.D.I. and of G.P.X.)

There is probably a shift in the regulation of non essential amino acids (Comparison with other forms of mental deficiencies)

In conformity with a general hypothesis, an abnormality of the mono-carbon metabolism could be the consequence of 1) and 2) and could represent the actual cause of mental deficiency.

Keywords

Carbon Cycle Congenital Hypothyroidism Oxygen Metabolism Mental Deficiency West Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1981

Authors and Affiliations

  • Jérôme Lejeune
    • 1
  1. 1.Faculté de MédecineInstitut de ProgénèseParisFrance

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