[Clinical aspects of chromosomal aberrations - problems of semiotics and nosography].
Despite intense clinical and cytogenetic research for more than 15 years we are far from knowing any definite relations between karyotype and phenotype. Both cytogeneticists and clinicians are working on the methodological improvements which are still necessary. In the methods of clinical recording there is still very great weakness of exact documentation of findings. Above all there is a lack of reproducible qualitative, and especially quantitative standards which constitute the basis of any practicable nosography. Some procedures for quantifying dysplastic facial features which have hardly b
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