Investigations of chromosomal stability in the Gorlin-Goltz syndrome

✍ Scribed by C. Römke; E. Gödde-Salz; W. Grote

• Book ID: 104789619
• Publisher: Springer-Verlag
• Year: 1985
• Tongue: English
• Weight: 373 KB
• Volume: 277
• Category: Article
• ISSN: 0340-3696
• DOI: 10.1007/bf00509235

✦ Synopsis

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.