Abstract
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder associated with abnormalities in 11p15.5 imprinted genes. The most common cause is loss of methylation (epimutation) at the imprinting control centre 2 (IC2/KvDMR1). Most IC2 epimutations occur sporadically but an association with conception after assisted reproductive technologies (ART) has been reported. A subgroup of IC2 epimutation cases also harbour epimutations at other imprinting centres (ICs) outside of 11p15.5. We have investigated the relationship between these multiple epimutation cases (ME+), history of ART and clinical phenotype in a cohort of 187 BWS IC2 epimutation patients.
Original language | English |
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Article number | 23 |
Journal | Clinical epigenetics |
Volume | 5 |
DOIs | |
Publication status | Published - 10 Dec 2013 |
Keywords
- Beckwith-Wiedemann syndrome
- Assisted reproductive technology
- Imprinting
- Genetics