Literature DB >> 4091589

Wiedemann-Beckwith syndrome in one of monozygotic twins.

B Bose, R A Wilkie, M Madlom, J S Forsyth, M J Faed.   

Abstract

A pair of monozygotic twins discordant for Wiedemann-Beckwith syndrome is described. The probability of monozygosity is 0.995. This observation suggests that the syndrome is unlikely to be under single gene control and genetic counselling should be based on multifactorial inheritance.

Entities:  

Mesh：

Year:  1985        PMID： 4091589      PMCID： PMC1777666          DOI： 10.1136/adc.60.12.1191

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  6 in total

1.  [FAMILIAL MALFORMATION COMPLEX WITH UMBILICAL HERNIA AND MACROGLOSSIA--A "NEW SYNDROME"?].

Authors:  H R WIEDEMANN
Journal:  J Genet Hum       Date:  1964-09

2.  The Beckwith-Wiedmann syndrome.

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

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

Authors:  A C Berry; E M Belton; C Chantler
Journal:  J Med Genet       Date:  1980-04       Impact factor: 6.318

4.  Monozygotic twinning and structural defects.

Authors:  A A Schinzel; D W Smith; J R Miller
Journal:  J Pediatr       Date:  1979-12       Impact factor: 4.406

5.  Localization of insulin-like growth factor genes to human chromosomes 11 and 12.

Authors:  J V Tricoli; L B Rall; J Scott; G I Bell; T B Shows
Journal:  Nature       Date:  1984 Aug 30-Sep 5       Impact factor: 49.962

6.  Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome.

Authors:  M Waziri; S R Patil; J W Hanson; J A Bartley
Journal:  J Pediatr       Date:  1983-06       Impact factor: 4.406
  6 in total
  5 in total

1.  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 2.  Wiedemann-Beckwith syndrome.

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

3.  Molecular analysis of patients with Wiedemann-Beckwith syndrome. I. Gene dosage on the short arm of chromosome 11.

Authors:  A Nyström; W Engström; J Cheetham; P N Schofield
Journal:  Eur J Pediatr       Date:  1992-07       Impact factor: 3.183

4.  Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.

Authors:  B Y Choi; A C Madeo; K A King; C K Zalewski; S P Pryor; J A Muskett; W E Nance; J A Butman; C C Brewer; A J Griffith
Journal:  J Med Genet       Date:  2009-07-02       Impact factor: 6.318

5.  Perlman and Wiedemann-Beckwith syndromes: two distinct conditions associated with Wilms' tumour.

Authors:  R G Grundy; J Pritchard; M Baraitser; A Risdon; M Robards
Journal:  Eur J Pediatr       Date:  1992-12       Impact factor: 3.183
  5 in total

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