Document Detail


Muscular dystrophy in girls with X;autosome translocations.
MedLine Citation:
PMID:  3806636     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Twenty known cases of X;autosome translocations with breakpoints at Xp21 associated with Duchenne or Becker muscular dystrophy in girls are reviewed. The variable severity described for different persons may reflect differences in X inactivation or in the nature of the genomic target disrupted. High resolution cytogenetic studies on 12 cases indicate breakpoints on the X chromosome at Xp21.1 or Xp21.2. Translocation chromosomes from several of these cases have been isolated in human/mouse somatic cell hybrids. Molecular heterogeneity in the breakpoint positions has been established by probing DNA from these hybrids with a range of cloned sequences known to be located within, or closely linked to, the Duchenne region. The minimum separation between the most distal and the most proximal breakpoints is 176 kb suggesting that, if a single gene is involved, it must be large. Alternatively, the translocations may affect different genes, or confer alterations to regulatory sequences which operate at a distance.
Authors:
Y Boyd; V Buckle; S Holt; E Munro; D Hunter; I Craig
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of medical genetics     Volume:  23     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1986 Dec 
Date Detail:
Created Date:  1987-03-11     Completed Date:  1987-03-11     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  484-90     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Chromosome Banding
Chromosome Mapping
Female
Humans
Muscular Dystrophies / genetics*
Nucleic Acid Hybridization
Syndrome
Translocation, Genetic
X Chromosome
Comments/Corrections

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