Cowden's disease with a defined genetic alteration--chromosomal duplication at 15q11-q13 |
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| Authors: | T Suzuki M Ichinose Y Matsubara N Yahagi K Kurokawa H Fukamachi K Miki |
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| Affiliation: | First Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan. |
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| Abstract: | Cowden's disease, multiple hamartoma syndrome, is a dominantly inherited disorder characterized by multiple hamartomas of ectodermal, endodermal, and mesodermal origin and also by a high incidence of malignant tumors. Despite many efforts to identify the genetic alterations responsible for the syndrome, the molecular mechanism remains unclear. We report a case of Cowden's disease in which karyotype analysis revealed a small duplication (about 1 Mb) at 15q11-q13. This part of the genome is a region that is deleted in the Prader-Willi/Angelman syndrome and is a "hot spot" of chromosomal duplication. |
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