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. 1992 Apr;29(4):221-5.
doi: 10.1136/jmg.29.4.221.

Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome

D Viljoen  1 , R Ramesar
Affiliations

Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome

D Viljoen et al. J Med Genet. 1992 Apr.

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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Comment in

  • Beckwith-Wiedemann syndrome.
    Norman AM, Read AP, Donnai D. Norman AM, et al. J Med Genet. 1992 Sep;29(9):679. doi: 10.1136/jmg.29.9.679. J Med Genet. 1992. PMID: 1404305 Free PMC article. No abstract available.

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