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Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains.

Eggermann ThomasMatthias BegemannLutz Pfeiffer
Published in: Clinical epigenetics (2021)
The identification of a unique deletion affecting both 11p15.5 imprinting domains in a BWS patient illustrates the complexity of the regulation mechanisms in these key imprinting regions.
Keyphrases
  • case report
  • pregnant women
  • preterm birth