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Results for “International Congress on Genetics”

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At least 19 recordsLinked to original sources
PubMed1998

Permanent Committee of the International Congress of Human Genetics.

For over three decades, the Permanent Committee of the International Congresses of Human Genetics has served the purpose of selecting a host and site for the quadrennial Congress, which is due next in 2001. The Committee has statutes and consists of one voting representative from 38 nations and other ex officio members, much like the General Assembly of the United Nations. It meets twice during each International Congress, otherwise conducting its business by mail and telecommunication. Its structure could be the beginnings of a truly global democratic body of human geneticists to address other issues and to serve other purposes, as human genetics becomes increasingly international, as inevitably it must.

Congresses as Topic↗
PubMed1980

[Mathematical approach to the differential diagnosis of phenotypically similar hereditary diseases].

The paper, which is based on the report made at XIV International Genetical Congress, concerns the problems of applying mathematical methods in differential diagnosis of relatively rare hereditary diseases (Marfan's disease, homocystinuria, mucopolysaccharidosis, epiphyseal dysplasias) and in analysis of phenotypical differences in dominant and recessive type of inheritance. Results of algorithmic mechanisms of detection, which provide a diagnosis during establishment of phenotypically homogeneous subgroups of patients within existing nosologic entities, are discussed. With such an approach, efficiency of diagnosis reaches 90% and more. In case of various possible modes of inheriting a disease with a genealogic history fragmentary or absent the authors propose that determining a possible type of hereditary transmission should be approached by analysis of phenotypical similarity of difference with reference to patients with cleared dominant or recessive type of inheritance. The latter is based on the discovery of phenotypical difference between patients with differing types of transmission of the mutant genes.

Chondrodysplasia Punctata↗