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. 1992 Apr;29(4):221–225. doi: 10.1136/jmg.29.4.221

Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.

D Viljoen 1, R Ramesar 1
PMCID: PMC1015916  PMID: 1583639

Abstract

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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