Article
[Computerized analysis in the study of multiple congenital defects connected with chromosome abnormalities: phenotype-karyotypic relations and genetic markers].
Vestnik Rossiiskoi akademii meditsinskikh nauk - 1 Jan 1992
Ivanov V I, Levina L Ia, Konstantinova L M, Zaiarnyĭ A N, Antonenko V G
Abstract excerpt
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...
Topics
- Abnormalities, Multiple
- Chromosome Aberrations
- Chromosome Disorders
- Diagnosis, Computer-Assisted
- Genetic Markers
- Humans
- Infant, Newborn
- Karyotyping
- Phenotype