A 4-Year-Old Boy with Beckwith Wiedemann Syndrome (BWS)

Aleksandra Janchevska; Velibor Tasic; Nevenka Laban; Momir Polenakovic; Zoran Gucev; Nadine Bachmann; Carsten Bergmann

doi:10.2478/prilozi-2018-0052

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A 4-Year-Old Boy with Beckwith Wiedemann Syndrome (BWS)

PRILOZI

Volume 39 (2018): Issue 2-3 (December 2018)

By: Aleksandra Janchevska, Velibor Tasic, Nevenka Laban, Momir Polenakovic, Zoran Gucev, Nadine Bachmann and Carsten Bergmann

Open Access

|Dec 2018

Abstract

Objectives: Molecular characterization of a patient with BWS.

Clinical presentation and intervention: A 4-year-old boy with overgrowth (weight above 99th and height at 99th percentile) had longitudinal hemihypertrophy of the tongue and left cheek. In addition, there was a difference of one centimeter in the circumference of the left and right leg. Molecular genetic analysis revealed hypomethylation of KvDRM1 (LIT1) in the imprinting control region-2 (ICR2) on chromosome 11p15.5 and a normal methylation pattern of the H19-differentially methylated region (H19-DMR) in the ICR1. The estimated tumor risk was 1-5%.

Conclusion: This patient with clinical characteristics of BWS has an imprinting defect associated with a low risk of embryonal tumors.

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Articles in this issue

DOI: https://doi.org/10.2478/prilozi-2018-0052 | Journal eISSN: 1857-8985 | Journal ISSN: 1857-9345

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Language: English

Page range: 131 - 135

Published on: Dec 31, 2018

Published by: Macedonian Academy of Sciences and Arts

In partnership with: Paradigm Publishing Services

Publication frequency: 3 issues per year

Keywords:

Beckwith Wiedemann Syndrome (BWS),

Related subjects:

Basic medical science,

History and ethics of medicine,

Clinical medicine,

Clinical medicine, other,

Social sciences,

Education,

Education, other

© 2018 Aleksandra Janchevska, Velibor Tasic, Nevenka Laban, Momir Polenakovic, Zoran Gucev, Nadine Bachmann, Carsten Bergmann, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Volume 39 (2018): Issue 2-3 (December 2018)