Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith–Wiedemann syndrome

Abstract Most Beckwith–Wiedemann syndrome (BWS) cases are sporadic; nonetheless, imprinting center 1 (IC1) microdeletions have been suggested as a rare cause of familial BWS, with ~ 20 reported cases. We report 13 cases from nine families with IC1 microdeletions. Recurrent 1.4-kb, 1.8-kb, and 2.2-kb...

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Hlavní autoři:	Qiliang Ding, Zinandre Stander, Brandon J. Elizalde, Erica S. Stelmach, Jaime C. Duncan, Noemi Vidal-Folch, Linda Hasadsri, Kandelaria M. Rumilla, Wei Shen
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2025-04-01
Edice:	Clinical Epigenetics
Témata:	Beckwith–Wiedemann syndrome BWS Familial BWS Imprinting center 1 IC1 microdeletion IC1 hypermethylation
On-line přístup:	https://doi.org/10.1186/s13148-025-01873-5
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