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.

journal_name

J Gastroenterol

authors

Suzuki T,Ichinose M,Matsubara Y,Yahagi N,Kurokawa K,Fukamachi H,Miki K

doi

10.1007/BF02934124

subject

Has Abstract

pub_date

1997-10-01 00:00:00

pages

696-9

issue

5

eissn

0944-1174

issn

1435-5922

journal_volume

32

pub_type

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