Investigations of chromosomal stability in the Gorlin-Goltz syndrome

Chromosomal studies were carried out on nine patients with the Gorlin-Goltz syndrome using recently developed methods on cultured lymphocytes. In addition, the dermatoglyphics of these patients were examined. No evidence of a characteristic chromosome aberration was found in banded prometaphase-chromosome preparations, nor could increased chromosome breakage be demonstrated in eight of the patients. One proposita showed frequent breaks of Chromosome 1 at p22. Increased chromosome instability in these patients was suggested by higher spontaneous and mitomycin-C-induced sister chromatid exchange rates in patients than in controls. Although the dermatoglyphic findings cannot be regarded as specific for the Gorlin-Goltz syndrome, an increased occurrence of whorl patterns and white lines in patients' fingerprints was noted.