Investigations of chromosomal stability in the Gorlin-Goltz syndrome |
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Authors: | C Römke E Gödde-Salz W Grote |
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Institution: | (1) Abteilung Humangenetik, Klinikum der Universität Kiel, Schwanenweg 24, D-2300 Kiel, Germany |
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Abstract: | Summary 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.Abbreviations SCE
sister chromatid exchange
- MMC
mitomycin C
- BrdU
bromodeoxyuridine
Dedicated to Prof. Dr. H.-R. Wiedemann on the occasion of his 70th birthday |
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Keywords: | Gorlin-Goltz syndrome Chromosome instability Sister chromatid exchange |
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