Document Detail

The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa.
MedLine Citation:
PMID:  2036742     Owner:  NLM     Status:  MEDLINE    
Comprehensive genealogical investigations have been undertaken in eight families in the Afrikaans-speaking community of South Africa, in which at least one person had spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). All eight families had ancestral links with two females. These women had multiple marriages and cohabitations during the late 17th and early 18th centuries and they were 12 generations removed from the affected individuals. The identification of these common progenitors confirmed the syndromic homogeneity of SEMDJL in South Africa and permitted recognition of numerous obligate heterozygotes, thus facilitating biomolecular investigations of the basic defect.
M Torrington; P Beighton
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical genetics     Volume:  39     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1991 Mar 
Date Detail:
Created Date:  1991-07-03     Completed Date:  1991-07-03     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  210-3     Citation Subset:  IM    
Medical Research Council of South Africa, Tygerberg.
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MeSH Terms
Chromosome Mapping
Europe / ethnology
Genes, Recessive / genetics
Heterozygote Detection
Osteochondrodysplasias / epidemiology,  genetics*,  pathology
South Africa / epidemiology

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