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

J Gastroenterol. 1997 Oct;32(5):696-9. doi: 10.1007/BF02934124.

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.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 13*
  • Chromosomes, Human, Pair 15*
  • Female
  • Hamartoma Syndrome, Multiple / diagnosis
  • Hamartoma Syndrome, Multiple / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Middle Aged
  • Multigene Family
  • Tomography, X-Ray Computed