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Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma
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  1. A K Lampe1,
  2. G Seymour1,
  3. P W Thompson2,
  4. A Toutain3,
  5. S A Lynch1
  1. 1Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
  2. 2Medical Genetics Service for Wales, University Hospital of Wales, Cardiff CF14 4XW, UK
  3. 3Service de Génétique, Hôpital Bretonneau, Tours, France
  1. Correspondence to:
    Dr A K Lampe, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK;
    anne.lampe{at}ncl.ac.uk

Abstract

Neurofibromatosis type 1 with dysmorphism and developmental delay is reported in a mother and two children. The son required treatment for a prostatic rhabdomyosarcoma. His sister has an optic pathway glioma. Fluorescence in situ hybridisation confirmed a submicroscopic deletion at 17q11.2. New evidence suggests an increased malignancy frequency in microdeletion cases.

  • neurofibromatosis type 1
  • rhabdomyosarcoma
  • microdeletion
  • facial dysmorphism
  • FISH, fluorescence in situ hybridisation
  • NF1, neurofibromatosis type 1
  • UBO, unidentified bright object
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