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 |
| 巻 | 32 |
| 号 | 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