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

研究成果: Article査読

3 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)696-699
ページ数4
ジャーナルJournal of gastroenterology
32
5
DOI
出版ステータスPublished - 1997 10月
外部発表はい

ASJC Scopus subject areas

  • 消化器病学

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