Literature DB >> 3189402

Absence of detectable chromosomal and molecular abnormalities in monozygotic twins discordant for the Wiedemann-Beckwith syndrome.

C E Litz1, K A Taylor, J S Qiu, O H Pescovitz, B de Martinville.   

Abstract

Monozygotic twins discordant for the Wiedemann-Beckwith syndrome (WBS) were studied by cytogenetic and molecular methods to determine if a genetic lesion could be detected in the affected child. Probes known to be localized on the short arm of chromosome 11 and a low copy-repetitive probe were used. No genetic lesions could be ascertained in normal or affected tissue obtained from the WBS twin.

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Year:  1988        PMID: 3189402     DOI: 10.1002/ajmg.1320300316

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  6 in total

1.  Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.

Authors:  W S Oetting; M M Mentink; C G Summers; R A Lewis; J G White; R A King
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

2.  Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

Authors:  R Tupler; L Barbierato; M Memmi; C A Sewry; D De Grandis; P Maraschio; L Tiepolo; A Ferlini
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

Review 3.  Genomic imprinting: review and relevance to human diseases.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025

4.  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

5.  Maternal Hypomethylation of KvDMR in a Monozygotic Male Twin Pair Discordant for Beckwith-Wiedemann Syndrome.

Authors:  S C Elalaoui; I Garin; A Sefiani; G Perez de Nanclares
Journal:  Mol Syndromol       Date:  2013-11-30

6.  Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism.

Authors:  W S Oetting; R A King
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

  6 in total

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