Gorlin Syndrome in Eleven Patients
Aim: Gorlin syndrome is an autosomal dominant disorder characterized by cutaneous basal cell carcinomas, odontogenic keratocysts and skeletal anomalies. Predisposition to certain types of cancers is among the main features of the disease. Chromosome instability was suspected as a mechanism for cance...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
2017-06-01
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| Series: | Journal of Pediatric Research |
| Subjects: | |
| Online Access: | http://jpedres.org/article_15022/Gorlin-Syndrome-In-Eleven-Patients |
| _version_ | 1797923598327873536 |
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| author | Gülen Eda Utine Yasemin Alanay Dilek Aktaş Koray Boduroğlu Mehmet Alikaşifoğlu Ergül Tunçbilek |
| author_facet | Gülen Eda Utine Yasemin Alanay Dilek Aktaş Koray Boduroğlu Mehmet Alikaşifoğlu Ergül Tunçbilek |
| author_sort | Gülen Eda Utine |
| collection | DOAJ |
| description | Aim: Gorlin syndrome is an autosomal dominant disorder characterized by cutaneous basal cell carcinomas, odontogenic keratocysts and skeletal anomalies. Predisposition to certain types of cancers is among the main features of the disease. Chromosome instability was suspected as a mechanism for cancer predisposition. However, previous studies failed to prove the presence of chromosome instability.
Materials and Methods: We present 11 patients with Gorlin syndrome.
Results: Six of the patients were checked for increased sister chromatid exchange and were found normal. Two other patients had concurrent chromosome anomalies.
Conclusion: Evidence for chromosome instability was not found in our patients. Occurrence of chromosome instability in a subgroup of patients and mechanisms underlying cancer predisposition requires further studies for full elucidation. Hairy patches and pigmentary skin lesions are among the recently defined common features of the syndrome. |
| first_indexed | 2024-04-10T14:50:00Z |
| format | Article |
| id | doaj.art-3d949a63ce1549af89babbf3e9d713a7 |
| institution | Directory Open Access Journal |
| issn | 2147-9445 |
| language | English |
| last_indexed | 2024-04-10T14:50:00Z |
| publishDate | 2017-06-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Journal of Pediatric Research |
| spelling | doaj.art-3d949a63ce1549af89babbf3e9d713a72023-02-15T16:07:39ZengGalenos YayineviJournal of Pediatric Research2147-94452017-06-0142636710.4274/jpr.09326Gorlin Syndrome in Eleven PatientsGülen Eda Utine0Yasemin Alanay1Dilek Aktaş2Koray Boduroğlu3Mehmet Alikaşifoğlu4Ergül Tunçbilek5Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Ankara, TurkeyHacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Ankara, TurkeyHacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Ankara, TurkeyHacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Ankara, TurkeyHacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Ankara, TurkeyHacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Ankara, TurkeyAim: Gorlin syndrome is an autosomal dominant disorder characterized by cutaneous basal cell carcinomas, odontogenic keratocysts and skeletal anomalies. Predisposition to certain types of cancers is among the main features of the disease. Chromosome instability was suspected as a mechanism for cancer predisposition. However, previous studies failed to prove the presence of chromosome instability. Materials and Methods: We present 11 patients with Gorlin syndrome. Results: Six of the patients were checked for increased sister chromatid exchange and were found normal. Two other patients had concurrent chromosome anomalies. Conclusion: Evidence for chromosome instability was not found in our patients. Occurrence of chromosome instability in a subgroup of patients and mechanisms underlying cancer predisposition requires further studies for full elucidation. Hairy patches and pigmentary skin lesions are among the recently defined common features of the syndrome.http://jpedres.org/article_15022/Gorlin-Syndrome-In-Eleven-PatientsGorlin syndromehairy patchchromosome instabilitysister chromatid exchangehypopigmented lesion |
| spellingShingle | Gülen Eda Utine Yasemin Alanay Dilek Aktaş Koray Boduroğlu Mehmet Alikaşifoğlu Ergül Tunçbilek Gorlin Syndrome in Eleven Patients Journal of Pediatric Research Gorlin syndrome hairy patch chromosome instability sister chromatid exchange hypopigmented lesion |
| title | Gorlin Syndrome in Eleven Patients |
| title_full | Gorlin Syndrome in Eleven Patients |
| title_fullStr | Gorlin Syndrome in Eleven Patients |
| title_full_unstemmed | Gorlin Syndrome in Eleven Patients |
| title_short | Gorlin Syndrome in Eleven Patients |
| title_sort | gorlin syndrome in eleven patients |
| topic | Gorlin syndrome hairy patch chromosome instability sister chromatid exchange hypopigmented lesion |
| url | http://jpedres.org/article_15022/Gorlin-Syndrome-In-Eleven-Patients |
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