title: The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa.
abstract: 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.
authors.affiliation: Medical Research Council of South Africa, Tygerberg.
authors.forename: M
authors.initials: M
authors.lastname: Torrington
authors.forename: P
authors.initials: P
authors.lastname: Beighton
mesh_terms: D002874:Chromosome Mapping; D005060:Europe / Q000208:ethnology; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D013019:South Africa / Q000453:epidemiology