[Approach to differential diagnosis of clinically related forms of chromosomal pathology using computers]

Multiple congenital developmental abnormalities account for a considerable share in the structure of the childhood morbidity, mortality and disability. Still, the differential diagnosis of the above abnormalities presents considerable difficulties because of the diversity of the forms and genetic pleomorphism. Using the method of rarefied templates of the "case--description term" type tried previously, a study was made of the possibility of differentiating between the clinically related forms of the chromosomal pathology 9p- and 11q- on the basis of phenotypic differences. The template was made up of 40 cases of 9p- and 40 cases of 11q-, accounting for 720 traits altogether. The "phenotypic nuclei"--traits occurring at a rate of over 25% were revealed for each syndrome and compared. Two approaches to the differentiation between these syndromes were used, which may turn out instrumental for diagnosing the clinically related forms of multiple congenital developmental abnormalities of the non-chromosomal genesis. The potentialities and difficulties of the computer-aided differential diagnosis are under discussion.