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Cowden’s disease with a defined genetic alteration—Chromosomal duplication at 15q11–q13

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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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  1. 1.

    Lloyd KM, Dennis M. Cowden’s disease: A possible new symptom complex with multiple system involvement. Ann Intern Med 1963;58:136–142.

  2. 2.

    Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. Cell 1990;61:759–767.

  3. 3.

    Stannk TM, Van der Veen JPW, Arwert F. The Cowden syndrome: A clinical and genetic study in 21 patients. Clin Genet 1986;29:222–233.

  4. 4.

    Nicholls RD. Genomic imprinting and candidate genes in the Prader Willi and Angelman syndromes. Curr Opin Genet Dev 1993;3:445–456.

  5. 5.

    Crolla JA, Harvery JF, Sitch FL, et al. Supernumerary marker 15 chromosomes: A clinical, molecular and FISH approach to diagnosis and prognosis. Hum Genet 1995;95:161–170.

  6. 6.

    Malcolm S, Donlon TA. Report of the Second International Workshop on Human Chromosome 15 mapping, 1994. Cytogenet Cell Genet 1994;67:1–36.

  7. 7.

    Ozcelik T. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nature Genet 1992;2:265–269.

  8. 8.

    Woodage T, Lindeman R, Deng ZM, et al. Physical mapping studies at D15S10: Implications for candidate genes identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-13. Genomics 1994;19:170–172.

  9. 9.

    Scheffner M, Huibretse JM, Vierstra RD, et al. The HPV-16 E6 and E6-AP complex functions as a ubiquitin protein ligase in the ubiquitination of p53. Cell 1993;75:495–505.

  10. 10.

    Williard W, Borgen P, Bol R, et al. Cowden disease: A case report with analysis at the molecular level. Cancer 1992;69:2969–2974.

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Correspondence to Kazumasa Miki.

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Suzuki, T., Ichinose, M., Matsubara, Y. et al. Cowden’s disease with a defined genetic alteration—Chromosomal duplication at 15q11–q13. J Gastroenterol 32, 696–699 (1997). https://doi.org/10.1007/BF02934124

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Key words

  • Cowden’s disease
  • Prader-Willi/Angelman syndrome