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