Document Detail


Newly described form of X-linked arthrogryposis maps to the long arm of the human X chromosome.
MedLine Citation:
PMID:  9714012     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
R T Zori; J L Gardner; J Zhang; M J Mullan; R Shah; A R Osborn; H Houlden; M R Wallace; S Roberts; T P Yang
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  78     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1998 Aug 
Date Detail:
Created Date:  1998-10-26     Completed Date:  1998-10-26     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  450-4     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, College of Medicine, University of Florida, Gainesville 32610, USA.
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MeSH Terms
Descriptor/Qualifier:
Alleles
Ankle Joint / abnormalities
Arthrogryposis / genetics*
Chromosome Mapping
Female
Gait
Gene Frequency
Genotype
Hip Joint / abnormalities
Humans
Knee Joint / abnormalities
Linkage (Genetics)*
Lod Score
Male
Microsatellite Repeats
Pedigree
Phenotype
Polymorphism, Restriction Fragment Length
X Chromosome*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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