Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma. Issue 5 (1st November 2002)

• Record Type: Journal Article
• Authors: Lampe, A K; Seymour, G; Thompson, P W; Toutain, A; Lynch, S A
• Is Part Of: Archives of disease in childhood. Volume 87:Issue 5(2002)
• Page Start: 444
• Page End: 445
• Publication Date: 2002-11-01
• Subjects: neurofibromatosis type 1 -- rhabdomyosarcoma -- microdeletion -- facial dysmorphism; FISH, fluorescence in situ hybridisation -- NF1, neurofibromatosis type 1 -- UBO, unidentified bright object; Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.87.5.444
• Languages: English
• ISSNs: 0003-9888

Abstract

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.