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[Human chromosome 2: database of cytogenetic mapping and phenotypical characteristics of structural aberrations]
V I Ivanov1, L Ia Levina, G G Smolianova
1Research Center for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia.
Abstract:
A data retrieval system CHRODYS combines databases on autosomal human dysmorphism. This system is based on the reported case descriptions of patients from our practice in 1970s-1990s. The system CHRODYS differs from similar systems by strict selection of data on partial and complete autosomal trisomies and monosomies for cytogenetic parameters. This is necessary for revealing syndromes of congenital malformations of chromosomal origin. As a collection of genetic data, the system may serve as a useful reference for solving both theoretical and applied tasks in human genetics. One of the blocks of this system concerning cytogenetic mapping of pathologic phenotypes, caused by aberrations of human chromosome 2, is presented in detail.