Eur J Pediatr. 1992 Jul;151(7):511-4.

Molecular analysis of patients with Wiedemann-Beckwith syndrome. II. Paternally derived disomies of chromosome 11.

Nyström A, Cheetham JE, Engström W, Schofield PN.

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Department of Paediatric Surgery, Karolinska Institutet, St. Görans Childrens Hospital, Stockholm, Sweden.

Abstract

In Wiedemann-Beckwith syndrome (WBS) a putative disease gene resides at the tip of the short arm of chromosome 11 in the region of the insulin growth like factor II (IGF-II) gene. Whilst changes in gene dosage in this area do not appear to be common in the syndrome, in familial cases the lesion appears to be dominant only when inherited through the female line. We undertook to examine the parental origin of the copies of chromosome 11 in a large group of WBS patients using a series of restriction fragment length polymorphisms (RFLPs) on 11p, and report here that in one sporadic case of WBS out of 14 both copies of chromosome 11 are derived from the father and are present in a normal dosage. This suggests that at least one mode of expression of the lesion is modified by genomic imprinting.

PMID:: 1356785; [PubMed - indexed for MEDLINE]

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Molecular analysis of patients with Wiedemann-Beckwith syndrome. I. Gene dosage on the short arm of chromosome 11. [Eur J Pediatr. 1992]
Molecular analysis of patients with Wiedemann-Beckwith syndrome. I. Gene dosage on the short arm of chromosome 11.
Nyström A, Engström W, Cheetham J, Schofield PN. Eur J Pediatr. 1992 Jul; 151(7):504-10.
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Cited by 3 PubMed Central articles

Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes. [Genes Dev. 1997]
Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes.
Eggenschwiler J, Ludwig T, Fisher P, Leighton PA, Tilghman SM, Efstratiadis A. Genes Dev. 1997 Dec 1; 11(23):3128-42.
Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome. [J Med Genet. 1997]
Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.
Catchpoole D, Lam WW, Valler D, Temple IK, Joyce JA, Reik W, Schofield PN, Maher ER. J Med Genet. 1997 May; 34(5):353-9.
Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. [J Med Genet. 1994]
Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.
Slatter RE, Elliott M, Welham K, Carrera M, Schofield PN, Barton DE, Maher ER. J Med Genet. 1994 Oct; 31(10):749-53.

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Molecular analysis of patients with Wiedemann-Beckwith syndrome. II. Paternally derived disomies of chromosome 11.

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