Cowden's disease with a defined genetic alteration--chromosomal duplication at 15q11-q13.
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.
Suzuki
T
T
First Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.
Ichinose
M
M
Matsubara
Y
Y
Yahagi
N
N
Kurokawa
K
K
Fukamachi
H
H
Miki
K
K
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