Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma.
case_report · Level V
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- Record sourced from PubMed, PMID 12390929.
- Also identified by PMC identifier 1763076.
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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.
Medical subject headings
- Chromosomes, Human, Pair 17
- Gene Deletion
- Neurofibromatosis 1
- Rhabdomyosarcoma