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