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A 4-Year-Old Boy with Beckwith Wiedemann Syndrome (BWS)
- Source :
- PRILOZI. 39:131-135
- Publication Year :
- 2018
- Publisher :
- Walter de Gruyter GmbH, 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.
- Subjects :
- 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
Subjects
Details
- ISSN :
- 18578985 and 18579345
- Volume :
- 39
- Database :
- OpenAIRE
- Journal :
- PRILOZI
- Accession number :
- edsair.doi.dedup.....0b44c59241cf3ddf95e23062395e4af7