[Computerized analysis in the study of multiple congenital defects connected with chromosome abnormalities:...

Computerized comparisons of phenotypes observed in different kinds of chromosomal imbalance and presented in the form of sparse matrices of traits were made to study the specificity of the indicated phenotypes, the possibility of differential diagnosis of the clinically similar forms, the presence of genetic markers, and the correspondence of the compared phenotypes to syndrome criteria. Stable enough, though variable trait associations characteristic of definite forms of imbalance of chromosomes 4, 5 and 9 were revealed, which were especially manifest when the respective trait frequency profiles were compared. Phenotypic distinction of 9p- and 11q-segmental monosomies was demonstrated and respective "phenotypic nuclei" were isolated. It has been shown that reliability of identification increases when the case to be analyzed is compared with a large enough number of primary descriptions. Analysis of 35 cases of 4p-segmental monosomies allowed the conclusion that Wolf-Hirschhorn syndrome is associated with deletion within 4 (p14-pter) region.