To report a phenotypic series of eight patients of Beckwith-Wiedemann Syndrome (BWS) with abnormalities of 11p15.5 region to highlight the spectrum of phenotypic manifestations.
All the cases were evaluated using Methylation Specific Multiplex Ligation Dependent Probe Amplification (MS-MLPA) of 11p15.5 region to detect the abnormal methylation status of ICR1 (H19DR) and ICR2 (KvDMR) regions.
The median age at diagnosis was 5.7 mo (range 1.5–13 mo) with female preponderance. Macroglossia, ear creases and abdominal wall defects were the major features. Hypomethylation at ICR2 and hypermethylation at ICR1 was observed in 6/8 and 2/8 patients respectively. No specific genotype and phenotype correlation was observed.
This report highlights the major clinical features of BWS that should prompt pediatricians to offer genetic testing to evaluate the epigenetic abnormalities using MS-MLPA, as it not only helps in appropriate counseling but also provides further guidance about the tumor risk surveillance.
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The authors are thankful to the patients and their families for their cooperation and Dr. Renu Saxena, Molecular Genetics, Sir Ganga Ram Hospital, New Delhi for doing molecular testing of patients.
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Correa, A.R.E., Mishra, P., Kabra, M. et al. Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases. Indian J Pediatr 87, 175–178 (2020). https://doi.org/10.1007/s12098-019-03148-3
- Beckwith-Wiedemann syndrome