A 4-Year-Old Boy with Beckwith Wiedemann Syndrome (BWS)
| Autor: | Nadine Bachmann, Nevenka Laban, Carsten Bergmann, Momir Polenakovic, Zoran Gucev, Aleksandra Janchevska, Velibor Tasic |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Male
Centimeter Pediatrics medicine.medical_specialty Beckwith-Wiedemann Syndrome business.industry Beckwith–Wiedemann syndrome General Medicine DNA Methylation medicine.disease Molecular analysis Genomic Imprinting Embryonal tumors medicine.anatomical_structure Tongue 99th percentile Child Preschool medicine Humans Imprinting (psychology) business Hemihypertrophy |
| Zdroj: | PRILOZI. 39:131-135 |
| ISSN: | 1857-8985 1857-9345 |
| DOI: | 10.2478/prilozi-2018-0052 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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