Document Detail


A review of known imprinting syndromes and their association with assisted reproduction technologies.
MedLine Citation:
PMID:  18703582     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
David J Amor; Jane Halliday
Publication Detail:
Type:  Journal Article; Review     Date:  2008-08-14
Journal Detail:
Title:  Human reproduction (Oxford, England)     Volume:  23     ISSN:  1460-2350     ISO Abbreviation:  Hum. Reprod.     Publication Date:  2008 Dec 
Date Detail:
Created Date:  2008-11-18     Completed Date:  2009-01-30     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8701199     Medline TA:  Hum Reprod     Country:  England    
Other Details:
Languages:  eng     Pagination:  2826-34     Citation Subset:  IM    
Affiliation:
Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia.
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MeSH Terms
Descriptor/Qualifier:
Angelman Syndrome / genetics
Beckwith-Wiedemann Syndrome / genetics
Chromosomes, Human, Pair 14
Craniofacial Abnormalities / genetics
DNA Methylation
Diabetes Mellitus / genetics
Epigenesis, Genetic*
Female
Genomic Imprinting*
Humans
Prader-Willi Syndrome / genetics
Pregnancy
Pseudohypoparathyroidism / genetics
Reproductive Techniques, Assisted / adverse effects*
Syndrome
Uniparental Disomy

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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