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Terminology of Genetic Syndromes

Published online by Cambridge University Press:  01 August 2014

Julius Bauer*
Affiliation:
College of Medical Evangelists, Los Angeles, Calif.

Summary

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Genetically determined abnormalities of structure or function occur either single or in various combinations. As genetic syndromes should be designated only those combinations that are typical, that is, significantly more frequent than would be expected from pure chance association. Some genetic defects are part of a syndrome or they only accompany other syndromes as irregular trimmings in various distribution and frequency. The accumulation of such “degenerative stigmas” as they were known to clinicians of an older generation had been called “status degenerativi” or “polygenopathy” and attributed to a “mess in the chromosomes” by the author long before this concept has been substantiated by the newest discoveries of British investigators. The biologic significance of such polygenopathies as to adaptation, resistance and general viability of their carriers has been stressed and a more satisfactory terminology suggested.

Type
Research Article
Copyright
Copyright © The International Society for Twin Studies 1961

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