Literature DB >> 34008861

COMMENTARY: Improving the prenatal diagnosis of Beckwith-Wiedemann syndrome.

Ignatia B Van den Veyver1,2,3.   

Abstract

When an omphalocele is identified on prenatal ultrasound, a number of differential diagnoses must be prioritized in the diagnostic work-up. After chromosomal abnormalities are excluded, the most common condition found is Beckwith-Wiedemann Syndrome (BWS)1, a complex imprinting disorder caused by disrupted expression of genes in the imprinted gene cluster on chromosome 11p15. 5 through a number of different mechanisms. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

Entities:  

Year:  2021        PMID: 34008861     DOI: 10.1002/pd.5971

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  1 in total

1.  Proposal for Practical Approach in Prenatal Diagnosis of Beckwith-Wiedemann Syndrome and Review of the Literature.

Authors:  Gwo-Chin Ma; Tze-Ho Chen; Wan-Ju Wu; Dong-Jay Lee; Wen-Hsiang Lin; Ming Chen
Journal:  Diagnostics (Basel)       Date:  2022-07-13
  1 in total

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