Document Detail


Germinal mosaicism in Duchenne muscular dystrophy.
MedLine Citation:
PMID:  3346017     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We have identified a Duchenne muscular dystrophy (DMD) pedigree where the disease is associated with a molecular deletion within the DMD locus. We have examined the meiotic segregation products of the common female ancestor using marker restriction fragment length polymorphisms (RFLPs) detected by probes that lie within this deletion. These studies show that this female has transmitted three distinct types of X chromosome to her offspring. This observation may be explained by postulating that the mutation arose as a postzygotic deletion within this common ancestor, who was consequently germinally mosaic.
Authors:
S Wood; B C McGillivray
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  78     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1988 Mar 
Date Detail:
Created Date:  1988-04-18     Completed Date:  1988-04-18     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  282-4     Citation Subset:  IM    
Affiliation:
Department of Medical Genetics, U.B.C., Vancouver, Canada.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Deletion
Female
Humans
Linkage (Genetics)
Male
Meiosis*
Mosaicism*
Muscular Dystrophies / genetics*
Ovum / cytology*,  ultrastructure
Pedigree
Pregnancy
X Chromosome*

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


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