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.
authors.affiliation: First Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Suzuki
authors.forename: M
authors.initials: M
authors.lastname: Ichinose
authors.forename: Y
authors.initials: Y
authors.lastname: Matsubara
authors.forename: N
authors.initials: N
authors.lastname: Yahagi
authors.forename: K
authors.initials: K
authors.lastname: Kurokawa
authors.forename: H
authors.initials: H
authors.lastname: Fukamachi
authors.forename: K
authors.initials: K
authors.lastname: Miki
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008875:Middle Aged; D005810:Multigene Family; D014057:Tomography, X-Ray Computed