Study of two cases of ring 13 chromosome using high-resolution banding.

The chromosomes of two patients with ring 13 (r13) were studied using high-resolution RBG banding of prometaphase cells. The rings of the two patients differ slightly in breakpoints. Cell with multiple single, double-sized rings, quadruple-sized rings, rod- and ring-shaped fragments, and fragments showing varied states of condensation were seen, as were cells monosomic for chromosome 13. The evolution of these cell lines as a result of sister chromatid exchange, nondisjunction, ring breakage, and premature chromosome condensation is discussed. Clinical features of these patients reflect the heterogeneity of phenotype for r13 patients. Each case includes a feature of trisomy 13. The significance of mosaicism of cell lines in patients bearing ring chromosomes is considered with respect to variation in clinical findings.     

Effect of mutant RNA polymerase on spontaneous mutagenesis in bacteriophage T4]

The frequency of spontaneous reversion in r-mutants of phage T4 is determined in order to study the influence of mutant RNA polymerase on the level of spontaneous mutations in phage T4. The rate of spontaneous mutagenesis in the phage is found to be increased in strains with mutant RNA polymerase.