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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
5
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pubmed:dateCreated |
1995-9-21
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pubmed:abstractText |
Hereditary neuropathy with a liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent pressure palsies generally precipitated by minor trauma; weakness and paraesthesia usually improve and recover completely in a few months. By Southern blotting and fluorescent in situ hybridization analysis we confirm the presence of a 17p11.2 deletion in familial and in isolated cases of HNPP, suggesting that molecular analysis of the 17p11.2 region could also be a reliable and non-invasive method of diagnosis in sporadic cases, where a correct diagnosis usually requires a nerve biopsy. Although HNPP is a mild disease and not all patients seek medical attention, a presymptomatic diagnosis is useful for assessing the risk during genetic counselling, due to the inheritance of the mutation.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0340-5354
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
242
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pubmed:owner |
NLM
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pubmed:authorsComplete |
N
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pubmed:pagination |
295-8
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:7643137-Chromosome Deletion,
pubmed-meshheading:7643137-Chromosomes, Human, Pair 17,
pubmed-meshheading:7643137-Genes, Dominant,
pubmed-meshheading:7643137-Genetic Counseling,
pubmed-meshheading:7643137-Humans,
pubmed-meshheading:7643137-Italy,
pubmed-meshheading:7643137-Pedigree,
pubmed-meshheading:7643137-Peripheral Nervous System Diseases,
pubmed-meshheading:7643137-Phenotype
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pubmed:year |
1995
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pubmed:articleTitle |
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients.
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pubmed:affiliation |
Institute of Biology and Genetics, Genoa, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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