Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.
A previously unreported family in which seven members in two generations have Beckwith-Wiedemann syndrome (BWS) is documented. Paternal imprinting of the gene responsible for BWS is involved as the mechanism responsible for the aberrant inheritance pattern in this kindred. A review of published reports showed 27 previously published pedigrees with two or more affected subjects with BWS. Paternal imprinting would explain the non-mendelian inheritance of BWS in all but four kindreds. The latter families are examined in more detail and in only one example is the evidence against imprinting totally unexplained.
Viljoen
D
D
Department of Human Genetics, University of Cape Town Medical School, South Africa.
Ramesar
R
R
D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D005220:Fathers; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008957:Models, Genetic; D010375:Pedigree; D010641:Phenotype