Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma.
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.
Lampe
A K
AK
Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK. anne.lampe@ncl.ac.uk
Seymour
G
G
Thompson
P W
PW
Toutain
A
A
Lynch
S A
SA
D000328:Adult; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications / Q000235:genetics*; D012208:Rhabdomyosarcoma / Q000150:complications / Q000235:genetics*