Document Detail

Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy.
MedLine Citation:
PMID:  1979959     Owner:  NLM     Status:  MEDLINE    
We have identified a Duchenne muscular dystrophy (DMD) pedigree with an unexpected pattern of inheritance. Using marker restriction fragment length polymorphisms detected by probes that lie within and outside the DMD gene, we could demonstrate that the maternal grandfather has transmitted two distinct types of X chromosomes to his offspring. This original observation may be explained by postulating that the DMD mutation must have occurred during mitosis in early germline proliferation, leading to a germline mosaicism within this male ancestor.
M Claustres; P Kjellberg; M Desgeorges; H Bellet; J Demaille
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  86     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1990 Dec 
Date Detail:
Created Date:  1991-02-12     Completed Date:  1991-02-12     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  241-3     Citation Subset:  IM    
INSERM U 249, CRBM/CNRS UPR 8402 and GREPAM, Montpellier, France.
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MeSH Terms
DNA Probes
Muscular Dystrophies / genetics*
Polymorphism, Restriction Fragment Length
Reg. No./Substance:
0/DNA Probes

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