<abstract xmlns="http://www.w3.org/1999/xhtml"><bold>Objectives:</bold> Molecular characterization of a patient with BWS.<bold>Clinical presentation and intervention:</bold> 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 <italic>H19</italic>-differentially methylated region (<italic>H19</italic>-DMR) in the ICR1. The estimated tumor risk was 1-5%.<bold>Conclusion:</bold> This patient with clinical characteristics of BWS has an imprinting defect associated with a low risk of embryonal tumors.</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.

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

Center for Human Genetics, Bioscientia Institute for Medical Diagnostics Ingelheim

PRILOZI

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

{"article-title":"A 4-Year-Old Boy with Beckwith Wiedemann Syndrome (BWS)"}

Objectives: Molecular characterization of a patient with BWS.Clinical presentation and intervention: A 4-year-old boy with overgrowth (weight above 99th and...

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

Pubblicato online: 31 dic 2018

Pagine: 131 - 135

DOI: https://doi.org/10.2478/prilozi-2018-0052

Parole chiave
Beckwith Wiedemann Syndrome (BWS), overgrowth, hypomethylation, embryonal tumors

© 2018 Aleksandra Janchevska et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

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

Pubblicato online: 31 dic 2018

Pagine: 131 - 135

DOI: https://doi.org/10.2478/prilozi-2018-0052

Parole chiaveBeckwith Wiedemann Syndrome (BWS), overgrowth, hypomethylation, embryonal tumors

© 2018 Aleksandra Janchevska et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Parole chiave
Beckwith Wiedemann Syndrome (BWS), overgrowth, hypomethylation, embryonal tumors