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

doi:10.1007/BF02934124

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

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

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 language	English
Pages (from-to)	696-699
Number of pages	4
Journal	Journal of gastroenterology
Volume	32
Issue number	5
DOIs	https://doi.org/10.1007/BF02934124
Publication status	Published - 1997 Oct
Externally published	Yes

Keywords

Cowden's disease
Prader-Willi/Angelman syndrome

ASJC Scopus subject areas

Gastroenterology

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10.1007/BF02934124

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

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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T1 - Cowden's disease with a defined genetic alteration - Chromosomal duplication at 15q11-q13

AU - Suzuki, Takehisa

AU - Ichinose, Masao

AU - Matsubara, Yasuo

AU - Yahagi, Naohisa

AU - Kurokawa, Kiyosi

AU - Fukamachi, Hiroshi

AU - Miki, Kazumasa

PY - 1997/10

Y1 - 1997/10

N2 - 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.

AB - 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.

KW - Cowden's disease

KW - Prader-Willi/Angelman syndrome

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

Abstract

Keywords

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