| Literature DB >> 20385510 |
M Chopra1, D J Amor, L Sutton, E Algar, D Mowat.
Abstract
Epigenetic alterations at several maternal loci have been associated with imprinting disorders in children conceived using assisted reproductive technologies. To date, epimutations at paternal loci have been observed in the spermatozoa of infertile men, but there is little evidence of paternal epimutations in babies conceived using assisted reproductive treatment. This is a report of a female infant with classic Russell-Silver Syndrome (RSS) who was conceived using intracytoplasmic injection of spermatozoa obtained from testicular aspiration. Methylation studies revealed hypomethylation of the paternally derived H19/IGF2 locus. As far as is known, this is the second assisted reproduction treatment-conceived patient with classic RSS and this epigenotype. This case provides further evidence that epimutations affecting paternal alleles might be associated with assisted reproductive treatment. 2010 Reproductive Healthcare Ltd. All rights reserved.Entities:
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Year: 2010 PMID： 20385510 DOI： 10.1016/j.rbmo.2010.02.025
Source DB: PubMed Journal: Reprod Biomed Online ISSN： 1472-6483 Impact factor: 3.828