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Case Reports
. 1997 Oct;32(5):696-9.
doi: 10.1007/BF02934124.

Cowden's disease with a defined genetic alteration--chromosomal duplication at 15q11-q13

T Suzuki  1 , M Ichinose, Y Matsubara, N Yahagi, K Kurokawa, H Fukamachi, K Miki
Affiliations
Case Reports

Cowden's disease with a defined genetic alteration--chromosomal duplication at 15q11-q13

T Suzuki et al. J Gastroenterol. 1997 Oct.

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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