Hostname: page-component-586b7cd67f-2plfb Total loading time: 0 Render date: 2024-11-29T18:57:02.244Z Has data issue: false hasContentIssue false
  • English
  • Français

Terminology of Genetic Syndromes

Published online by Cambridge University Press:  01 August 2014

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

Summary

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

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
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 10 , Issue 1 , January 1961 , pp. 63 - 69
Copyright
Copyright © The International Society for Twin Studies 1961

References

1. Asher, R. (1959): Lancet, 09 19. 359.Google Scholar
2. Bauer, J. (1945): Constitution and Disease. 2. ed. Grune & Stratton, New York.Google Scholar
3. Marfan, A.-B. (1896): Bull, et Mém. Soc. méd. Hôpitaux de Paris, 28 Févr. 220.Google Scholar
4. Boerger, F (1914): Zeitschr. f. Kinderheilk, 12, 161.CrossRefGoogle Scholar
5. Buchem, van (1959): Circulat 20.Google Scholar
6. Golden, R. L., and Lakin, H. (1959) New Engl. J. Med., 260. 797.CrossRefGoogle Scholar
7. Roark, J. W. (1959) Arch. int. med., 103, 123.Google Scholar
8. Mckusick, V. (1958) Heritable Diseases of Connective Tissue.Google Scholar
9. Bauer, J. (1924) Konstitutionelle Disposition zu inneren Krankheiten 3. Aufl. Springer, Berlin Aschner, B. (1931) Klin. Woch. 10, 1981.CrossRefGoogle Scholar
10. Sjoerdsma, A., Davidson, J. D., Udenfriend, S., and Mitoma, Ch. (1958) Lancet, 11 8. 994.Google Scholar
11. Turner, H. (1938) Endrocrinol., 23, 566.CrossRefGoogle Scholar
12. Haddad, H. M., and Wilkins, L. (1959) Pediatr., 23, 885.Google Scholar
13. Berg, J. M., and Kirman, B. H. (1959) Brit. med. J. Oct. 31. 848.CrossRefGoogle Scholar
14. Bleyer, A. (1934) Am. J. Dis. Childr., 47, 342.Google Scholar
15. Friedberg, Ch. K. (1931) Zeitschr. Konstitutionsl., 15. 779.Google Scholar
16. Bunge, R. G., and Bradbury, J. T. (1959). J. Clin. Endocrin. a. Metab., 19, 1103.Google Scholar
17. Bauer, J. (1952) Med. Clin. N. Am., 911.Google Scholar
18. Bauer, J. (1956) The Person behind the Disease. Grune & Stratton, New York.Google Scholar
19. Mohler, D. N. (1959) Am. J. Med., 27, 682.Google Scholar
20. Alstroem, C. H., Hallgren, B., Nilsson, L. B., and Asander, H. (1959) Acta Psychiatr. Scand., 34, suppl. 129.Google Scholar
21. Ullrich, O. (1949): Am. J. Hum. Genet., 1, 179.Google Scholar
22. Steen, R. E. (1959): Brit. Heart J., 21, 269.Google Scholar
23. Bauer, J. (1941): New Internat. Clin., 3, 53.Google Scholar