Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma.
Arch Dis Child
; 87(5): 444-5, 2002 Nov.
Article
em En
| MEDLINE
| ID: mdl-12390929
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Rabdomiossarcoma
/
Cromossomos Humanos Par 17
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Neurofibromatose 1
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Deleção de Genes
Limite:
Adult
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Arch Dis Child
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Reino Unido