Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?

Eur J Hum Genet. 2023 Jun;31(6):615-616. doi: 10.1038/s41431-023-01354-4. Epub 2023 Apr 3.
No abstract available

MeSH terms

  • Beckwith-Wiedemann Syndrome* / diagnosis
  • Beckwith-Wiedemann Syndrome* / genetics
  • DNA Methylation
  • Diagnostic Techniques and Procedures
  • Genomic Imprinting
  • Humans
  • Mosaicism
  • Uniparental Disomy* / diagnosis
  • Uniparental Disomy* / genetics