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Hum. Reprod. Advance Access published online on August 14, 2008
Human Reproduction, doi:10.1093/humrep/den310
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© The Author 2008. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

A review of known imprinting syndromes and their association with assisted reproduction technologies

David J. Amor1,2,3 and Jane Halliday1,2

1 Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria 3052, Australia 2 Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Flemington Road, Parkville, Victoria 3052, Australia

3 Correspondence address. Tel: +61-3-8341-6293; Fax: +61-3-8341-6390; E-mail: david.amor{at}mcri.edu.au

An association between assisted reproduction technologies (ART) and abnormal genomic imprinting in humans has been recognized for several years; however, the magnitude of this risk and the spectrum of imprinting syndromes to which the risk applies remains unknown. Nine human imprinting syndromes have been identified but current evidence links ART with only three: Beckwith–Wiedemann syndrome, Angelman syndrome and the newly described maternal hypomethylation syndrome. There is currently a lack of evidence linking ART with the remaining six imprinting syndromes: Prader–Willi syndrome, Russell–Silver syndrome, maternal and paternal uniparental disomy of chromosome 14, pseudohypoparathyroidism type 1b and transient neonatal diabetes. Evidence from clinical reports suggests that the association between imprinting syndromes and ART may be restricted to syndromes where the imprinting change takes the form of hypomethylation on the maternal allele. In contrast, studies of gametes and early embryos suggest that ART can be associated with hypermethylation as well as hypomethylation, with imprinting changes occurring on paternal as well as maternal alleles. The health effects of ART-associated imprinting changes may also extend beyond the nine recognized imprinting syndromes.

Key words: assisted reproduction/imprinting syndromes/Beckwith–Wiedemann syndrome/Angelman syndrome/maternal hypomethylation syndrome

Submitted on June 15, 2008; resubmitted on July 15, 2008; accepted on July 16, 2008.


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