title: Investigations of chromosomal stability in the Gorlin-Goltz syndrome.
abstract: 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.
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000235:genetics* / Q000473:pathology; D002280:Basal Cell Carcinoma / Q000235:genetics*; D002478:Cells, Cultured; D002873:Chromosome Fragility; D002877:Chromosomes, Human / Q000648:ultrastructure*; D002900:Chromosomes, Human, 1-3 / Q000648:ultrastructure; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D016685:Mitomycin; D008937:Mitomycins / Q000494:pharmacology; D012854:Sister Chromatid Exchange / Q000187:drug effects
chemical_list: D008937:Mitomycins; D016685:Mitomycin