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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
1998-10-26
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pubmed:abstractText |
Arthrogryposis is a heterogeneous birth defect characterized by limitation of movement at multiple joints. One in 3,000 infants is born with arthrogryposis, and at least a third of these cases have a genetic cause. Four distinct types of X-linked arthrogryposis have been reported, and a severe lethal form recently was mapped to Xpll.3-qll.2. We now report an extended family affected with a novel variant of X-linked arthrogryposis that involves only the lower limbs. Linkage analysis with polymorphic DNA markers maps the disease locus in this unique family to the long arm of the human X chromosome between DXS1220 and DXS1205 in Xq23-27.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0148-7299
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
6
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pubmed:volume |
78
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
450-4
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:9714012-Alleles,
pubmed-meshheading:9714012-Ankle Joint,
pubmed-meshheading:9714012-Arthrogryposis,
pubmed-meshheading:9714012-Chromosome Mapping,
pubmed-meshheading:9714012-Female,
pubmed-meshheading:9714012-Gait,
pubmed-meshheading:9714012-Gene Frequency,
pubmed-meshheading:9714012-Genetic Linkage,
pubmed-meshheading:9714012-Genotype,
pubmed-meshheading:9714012-Hip Joint,
pubmed-meshheading:9714012-Humans,
pubmed-meshheading:9714012-Knee Joint,
pubmed-meshheading:9714012-Lod Score,
pubmed-meshheading:9714012-Male,
pubmed-meshheading:9714012-Microsatellite Repeats,
pubmed-meshheading:9714012-Pedigree,
pubmed-meshheading:9714012-Phenotype,
pubmed-meshheading:9714012-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:9714012-X Chromosome
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pubmed:year |
1998
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pubmed:articleTitle |
Newly described form of X-linked arthrogryposis maps to the long arm of the human X chromosome.
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pubmed:affiliation |
Department of Pediatrics, College of Medicine, University of Florida, Gainesville 32610, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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