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

Takehisa Suzuki, Masao Ichinose, Yasuo Matsubara, Naohisa Yahagi, Kiyosi Kurokawa, Hiroshi Fukamachi, Kazumasa Miki

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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.

Original languageEnglish
Pages (from-to)696-699
Number of pages4
JournalJournal of gastroenterology
Volume32
Issue number5
DOIs
Publication statusPublished - 1997 Oct
Externally publishedYes

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Keywords

  • Cowden's disease
  • Prader-Willi/Angelman syndrome

ASJC Scopus subject areas

  • Gastroenterology

Cite this

Suzuki, T., Ichinose, M., Matsubara, Y., Yahagi, N., Kurokawa, K., Fukamachi, H., & Miki, K. (1997). Cowden's disease with a defined genetic alteration - Chromosomal duplication at 15q11-q13. Journal of gastroenterology, 32(5), 696-699. https://doi.org/10.1007/BF02934124