Genetic syndromology. Introduction to a series
Seemanová, E.
Casopis Lekaru Ceskych 141(10): 299-303
2002
ISSN/ISBN: 0008-7335 PMID: 12078581 Document Number: 542672
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.