Article Text

Download PDFPDF

Germline duplication of chromosome 2p and neuroblastoma.
  1. J S Patel,
  2. J Pearson,
  3. L Willatt,
  4. T Andrews,
  5. R Beach,
  6. A Green
  1. Department of Medical Genetics, Addenbrooke's NHS Trust, Cambridge, UK.


    A child with a germline duplication of chromosome 2p, 46,XY,der(13)t(2;13)(p23;q34), who developed a fatal neuroblastoma confirmed at necropsy is reported. Fluorescent in situ hybridisation studies showed chromosome 2p (p23-pter) duplicated on chromosome 13 (q34). The clinical features of the present case shared many similarities to previous reports of trisomy 2p and there have been two cases described with neuroblastoma. Germline duplication of chromosome 2p including the N-myc proto-oncogene may have pre-disposed to the development of neuroblastoma in this case.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.