Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma.

  title={Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma.},
  author={Anne Katrin Lampe and Graham B Seymour and Peter W Thompson and Annick Toutain and Sally Ann Lynch},
  journal={Archives of disease in childhood},
  volume={87 5},
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. 

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