Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma. Issue 5 (1st November 2002) - Lampe, A K
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.