Authors: E. Seemanová Authors‘ workplace: Oddělení klinické genetiky Ústavu biologie a lékařské genetiky 2. LF UK, Praha Published in: Čas. Lék. čes. 2002; : 299-303 Category:
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 appearso-called signal features,which enable to narrow the range of possible disorders for the differential diagnosis of theassumptive diseases.
Key words: syndromology,dysmorphology,signal features,etiology of syndromes.
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