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Literature DB >> 7189783

Monozygotic twins discordant for Wiedemann-Beckwith syndrome and the implications for genetic counselling.

Abstract

A pair of monozygous twins discordant for Wiedemann-Beckwith syndrome is described and published reports reviewed to establish the mode of inheritance. Single gene control seems unlikely and it is proposed that the condition arises from the interaction of "at risk" genes in the fetus and metabolic factors in the mother, which suggests multifactorial control.

Entities: Disease

Mesh：

Year: 1980 PMID： 7189783 PMCID： PMC1048520 DOI： 10.1136/jmg.17.2.136

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

12 in total

1. Beckwith-Wiedemann syndrome in a mother and her son.

Authors: E Ben-Galim; E Gross-Kieselstein; A Abrahamov
Journal: Am J Dis Child Date: 1977-07

2. Letter: Autosomal-dominant sex-dependent transmission of the Wiedemann-Beckwith syndrome.

Authors: M Lubinsky; J Herrmann; A L Kosseff; J M Opitz
Journal: Lancet Date: 1974-05-11 Impact factor: 79.321

3. E.M.G. syndrome.

Authors: H R Wiedemann
Journal: Lancet Date: 1973-09-15 Impact factor: 79.321

4. Letter: Pseudo-Beckwith-Wiedemann syndrome: interaction with maternal diabetes.

Authors: L I Gardner
Journal: Lancet Date: 1973-10-20 Impact factor: 79.321

5. Wiedemann-Beckwith syndrome.

Authors: R M Forrester
Journal: Lancet Date: 1973-07-07 Impact factor: 79.321

6. The Wiedemann-Beckwith syndrome: genetic considerations and a diagnostic sign.

Authors: A L Kosseff; J Herrmann; J M Opitz
Journal: Lancet Date: 1972-04-15 Impact factor: 79.321

7. Exomphalos with macroglossia: a study of eleven cases.

Authors: I M Irving
Journal: J Pediatr Surg Date: 1967-12 Impact factor: 2.545

8. The Beckwith-Wiedemann syndrome. Seven new cases.

Authors: M M Cohen; R J Gorlin; M Feingold; R W ten Bensel
Journal: Am J Dis Child Date: 1971-12

9. The Beckwith-Wiedmann syndrome.

Authors: G Filippi; V A Mckusick
Journal: Medicine (Baltimore) Date: 1970-07 Impact factor: 1.889

10. Letter: Wiedemann-Beckwith syndrome.

Authors: N Matsuura; M Endo; T Okayasu; A Okuno
Journal: Lancet Date: 1975-09-13 Impact factor: 79.321

12 in total

1. Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.

Authors: Claire Louise Susan Turner; Deborah M Mackay; Jonathan L A Callaway; Louise E Docherty; Rebecca L Poole; Hilary Bullman; Margaret Lever; Bruce M Castle; Emma C Kivuva; Peter D Turnpenny; Sarju G Mehta; Sahar Mansour; Emma L Wakeling; Verghese Mathew; Jackie Madden; Justin H Davies; I Karen Temple
Journal: Eur J Hum Genet Date: 2010-01-27 Impact factor: 4.246

2. Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.

Authors: D Viljoen; R Ramesar
Journal: J Med Genet Date: 1992-04 Impact factor: 6.318

3. Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature.

Authors: M J Pettenati; J L Haines; R R Higgins; R S Wappner; C G Palmer; D D Weaver
Journal: Hum Genet Date: 1986-10 Impact factor: 4.132

4. Wiedemann-Beckwith syndrome in one of monozygotic twins.

Authors: B Bose; R A Wilkie; M Madlom; J S Forsyth; M J Faed
Journal: Arch Dis Child Date: 1985-12 Impact factor: 3.791

5. Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield.

Authors: Jochen K Lennerz; Robert J Timmerman; Dorothy K Grange; Michael R DeBaun; Andrew P Feinberg; Barbara A Zehnbauer
Journal: J Mol Diagn Date: 2010-07-08 Impact factor: 5.568

Review 6. Wiedemann-Beckwith syndrome.

Authors: W Engström; S Lindham; P Schofield
Journal: Eur J Pediatr Date: 1988-06 Impact factor: 3.183