Abstract
Syndromes of chromosomal instability (SCI) is an autosomal recessive genetic disorder repair DNA changes, and therefore highly sensitive to the mutagenic effects, in particular chemical ionization In our republic is available direct DNA diagnostics of mutations in ATM gene and NBN gene, responSouhrnsible for Louis-Bar and Nijmegen breakage syndromes. In case of another SCI we must cooperate with centres in abroad.
Here we describe phenotypes of individual SCI and emphasize the signal features.