[Congenital developmental defects in the genetic monitoring system. I. The selection of developmental defects subject to dynamic observation].
The requirements for selection of congenital malformations in the system of genetic monitoring as models have been studied. Model malformations have been shown to be easily and reliably diagnosed even in infancy. Their rate should be not less than 1:5000 births. The precise knowledge of the genetics of model forms is needed as well. Down's syndrome registration is the most convenient method for evaluation of mutations in a genome. We recommend registration in total all multiple congenital malformations (without Down's syndrome) for estimation of dominant mutability dynamics, as it was shown that more than 11% of all multiple malformations are caused by sporadic dominant mutations.
D000013:Congenital Abnormalities / Q000453:epidemiology / Q000235:genetics*; D004314:Down Syndrome / Q000453:epidemiology / Q000235:genetics; D005799:Genes, Dominant; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D012042:Registries
Vrozhdennye poroki razvitiia v sisteme geneticheskogo monitoringa. Soobshchenie I. Otbor porokov razvitiia, podlezhashchikh dinamicheskomu nabliudeniiu.'