{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T09:55:37Z","timestamp":1790416537038,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T00:00:00Z","timestamp":1376611200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>Silver\u2013Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome characterized by severe intrauterine and postnatal growth retardation, facial dysmorphism and body asymmetry. One of the main molecular mechanisms leading to the syndrome involves methylation abnormalities of chromosome 11p15. In the last decades, an increase of imprinting disorders have been reported in children born from assisted reproductive technology (ART); however there is currently little evidence linking SRS and ART. Only few infants with SRS born using ART, supported by molecular analysis, have been described. We report on a twin\u2010girl conceived using intracytoplasmic sperm injection (ICSI) diagnosed with SRS. Molecular studies revealed a hypomethylation of the paternal <jats:italic>H19\/IGF2<\/jats:italic> Imprinting Control Region. Her twin sister had a normal prenatal and postnatal growth and a normal methylation pattern of the chromosome 11p15. This is the second reported case of a twin infant with SRS conceived using ART with hypomethylation of <jats:italic>H19\/IGF2<\/jats:italic>; it provides additional evidence of a possible relationship between ART procedures and methylation defects observed in SRS. Given the clinical heterogeneity of SRS, and the increased risk of multiple and preterm births in the ART\u2010conceived children, it is possible that a number of cases of SRS remains undiagnosed in this population. Future studies should investigate the possible link between ART and SRS, in order to better understand the causes of epimutations in ART pregnancies, and to help clinicians to adequately counsel parents who approach to ART and to assess the opportunity of a long\u2010term follow\u2010up of children conceived using ART. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36145","type":"journal-article","created":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T17:31:17Z","timestamp":1376674277000},"page":"2652-2655","source":"Crossref","is-referenced-by-count":23,"title":["Silver\u2013Russell syndrome due to paternal <i>H19<\/i>\/<i>IGF2<\/i> hypomethylation in a twin girl born after in vitro fertilization"],"prefix":"10.1002","volume":"161","author":[{"given":"Guido","family":"Cocchi","sequence":"first","affiliation":[{"name":"Department of Maternal and Paediatric Sciences, Neonatology, St. Orsola\u2010Malpighi Hospital University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Concetta","family":"Marsico","sequence":"additional","affiliation":[{"name":"Department of Maternal and Paediatric Sciences, Neonatology, St. Orsola\u2010Malpighi Hospital University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Cosentino","sequence":"additional","affiliation":[{"name":"Department of Maternal and Paediatric Sciences, Neonatology, St. Orsola\u2010Malpighi Hospital University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Spadoni","sequence":"additional","affiliation":[{"name":"Department of Maternal and Paediatric Sciences, Neonatology, St. Orsola\u2010Malpighi Hospital University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Rocca","sequence":"additional","affiliation":[{"name":"Department of Maternal and Paediatric Sciences, Neonatology, St. Orsola\u2010Malpighi Hospital University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agostina","family":"De Crescenzo","sequence":"additional","affiliation":[{"name":"Department of Environmental Biological and Pharmaceutical Sciences and Technologies Second University of Naples Caserta Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Riccio","sequence":"additional","affiliation":[{"name":"Department of Environmental Biological and Pharmaceutical Sciences and Technologies Second University of Naples Caserta 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