Document Detail

Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma.
MedLine Citation:
PMID:  12390929     Owner:  NLM     Status:  MEDLINE    
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.
A K Lampe; G Seymour; P W Thompson; A Toutain; S A Lynch
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Archives of disease in childhood     Volume:  87     ISSN:  1468-2044     ISO Abbreviation:  Arch. Dis. Child.     Publication Date:  2002 Nov 
Date Detail:
Created Date:  2002-10-22     Completed Date:  2002-12-17     Revised Date:  2008-11-20    
Medline Journal Info:
Nlm Unique ID:  0372434     Medline TA:  Arch Dis Child     Country:  England    
Other Details:
Languages:  eng     Pagination:  444-5     Citation Subset:  AIM; IM    
Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
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MeSH Terms
Child, Preschool
Chromosomes, Human, Pair 17 / genetics*
Gene Deletion*
Neurofibromatosis 1 / complications,  genetics*
Rhabdomyosarcoma / complications,  genetics*

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