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  Česky / Czech version Čas. Lék. čes., 141, 2002, No. 10, p. 299-303
 
Genetic Syndromology –an Introduction to a Series of Papers 
Seemanová E. 

Oddělení klinické genetiky Ústavu biologie a lékařské genetiky 2.LF UK,Praha
 


Summary:

       Syndromology belongs to diagnostic methods based on the analysis of phenotypic (clinical or anatomical – dysmorphics)features,which occur very often together and have a common etiology (e.g.teratogenic embryopathy, numerical and structural chromosomal aberrations or gene mutations).In the phenotype analysis important appear so-called signal features,which enable to narrow the range of possible disorders for the differential diagnosis of the assumptive diseases.

        Key words: syndromology,dysmorphology,signal features,etiology of syndromes.
       

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