| Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome. | |
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MedLine Citation:
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PMID: 9598729 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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C J van Asperen; W C Overweg-Plandsoen; M H Cnossen; D A van Tijn; R C Hennekam |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of medical genetics Volume: 35 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1998 Apr |
Date Detail:
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Created Date: 1998-06-30 Completed Date: 1998-06-30 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 323-7 Citation Subset: IM |
Affiliation:
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Institute for Human Genetics, Academic Medical Centre, Amsterdam, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adult Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 17 Female Genetic Diseases, Inborn Growth Disorders / complications, genetics* Humans Male Neurofibromatosis 1 / complications, genetics* Syndrome |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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