Document Detail

Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.
MedLine Citation:
PMID:  9598729     Owner:  NLM     Status:  MEDLINE    
The simultaneous occurrence of familial neurofibromatosis type 1 (NF1) and an overgrowth syndrome resembling Weaver syndrome was observed in two related cases (a mother and her son). NF1 was confirmed by molecular genetic analysis showing a large deletion at 17q11.2, encompassing the entire NF1 gene. The other symptoms in the two cases were similar to the features reported in Weaver syndrome. Although the combination of NF1 and an overgrowth syndrome resembling Weaver syndrome in this family may be fortuitous, we favour the hypothesis that the deletion of the entire gene has caused this combined phenotype. Possible pathogenetic mechanisms are discussed. The observation suggests a relation between NF1 with an extraordinarily large gene deletion and a Weaver(-like) syndrome. This warrants investigation for deletions in the 17q11.2 region in Weaver(-like) syndrome patients.
C J van Asperen; W C Overweg-Plandsoen; M H Cnossen; D A van Tijn; R C Hennekam
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  35     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1998 Apr 
Date Detail:
Created Date:  1998-06-30     Completed Date:  1998-06-30     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  323-7     Citation Subset:  IM    
Institute for Human Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
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MeSH Terms
Abnormalities, Multiple / genetics*
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 17
Genetic Diseases, Inborn
Growth Disorders / complications,  genetics*
Neurofibromatosis 1 / complications,  genetics*

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