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.
journal_name
Reprod Biomed Onlinejournal_title
Reproductive biomedicine onlineauthors
Chopra M,Amor DJ,Sutton L,Algar E,Mowat Ddoi
10.1016/j.rbmo.2010.02.025subject
Has Abstractpub_date
2010-06-01 00:00:00pages
843-7issue
6eissn
1472-6483issn
1472-6491pii
S1472-6483(10)00107-0journal_volume
20pub_type
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journal_title:Reproductive biomedicine online
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journal_title:Reproductive biomedicine online
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journal_title:Reproductive biomedicine online
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journal_title:Reproductive biomedicine online
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更新日期:2012-12-01 00:00:00
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