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[Genetic syndromology. Introduction to a series]
1Oddĕlení klinické genetiky Ustavu biologie a lékarské genetiky 2. LF UK, Praha. eva.seemanova@lfmotol.cuni.cz
Casopis Lekaru Ceskych
|June 25, 2002
Abstract:
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.