{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T20:31:12Z","timestamp":1790195472772,"version":"4.1.0"},"reference-count":34,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2021,4,16]],"date-time":"2021-04-16T00:00:00Z","timestamp":1618531200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP15131"],"award-info":[{"award-number":["GGP15131"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Progetti per la ricerca oncologica della Regione Campania","award":["I-Cure"],"award-info":[{"award-number":["I-Cure"]}]},{"name":"\u201cProgetti competitivi intraAteneo\u201d Programma V:ALERE (VAnviteLli pEr la RicErca) 2019","award":["MIRIAM"],"award-info":[{"award-number":["MIRIAM"]}]},{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["24405"],"award-info":[{"award-number":["24405"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Molecular defects altering the expression of the imprinted genes of the 11p15.5 cluster are responsible for the etiology of two congenital disorders characterized by opposite growth disturbances, Silver\u2013Russell syndrome (SRS), associated with growth restriction, and Beckwith\u2013Wiedemann syndrome (BWS), associated with overgrowth. At the molecular level, SRS and BWS are characterized by defects of opposite sign, including loss (LoM) or gain (GoM) of methylation at the H19\/IGF2:intergenic differentially methylated region (H19\/IGF2:IG-DMR), maternal or paternal duplication (dup) of 11p15.5, maternal (mat) or paternal (pat) uniparental disomy (upd), and gain or loss of function mutations of CDKN1C. However, while upd(11)pat is found in 20% of BWS cases and in the majority of them it is segmental, upd(11)mat is extremely rare, being reported in only two SRS cases to date, and in both of them is extended to the whole chromosome. Here, we report on two novel cases of mosaic upd(11)mat with SRS phenotype. The upd is mosaic and isodisomic in both cases but covers the entire chromosome in one case and is restricted to 11p14.1-pter in the other case. The segmental upd(11)mat adds further to the list of molecular defects of opposite sign in SRS and BWS, making these two imprinting disorders even more specular than previously described.<\/jats:p>","DOI":"10.3390\/genes12040581","type":"journal-article","created":{"date-parts":[[2021,4,16]],"date-time":"2021-04-16T10:20:11Z","timestamp":1618568411000},"page":"581","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8835-5567","authenticated-orcid":false,"given":"Laura","family":"Pignata","sequence":"first","affiliation":[{"name":"Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Universit\u00e0 degli Studi della Campania \u201cLuigi Vanvitelli\u201d, 81100 Caserta, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4352-945X","authenticated-orcid":false,"given":"Angela","family":"Sparago","sequence":"additional","affiliation":[{"name":"Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Universit\u00e0 degli Studi della Campania \u201cLuigi Vanvitelli\u201d, 81100 Caserta, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6583-3482","authenticated-orcid":false,"given":"Orazio","family":"Palumbo","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Fondazione IRCCS \u201cCasa Sollievo della Sofferenza\u201d, 71013 San Giovanni Rotondo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4639-8144","authenticated-orcid":false,"given":"Elena","family":"Andreucci","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Meyer Children\u2019s Hospital, 50139 Firenze, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Lapi","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Meyer Children\u2019s Hospital, 50139 Firenze, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romano","family":"Tenconi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Clinical Genetics, Universit\u00e0 di Padova, 35122 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6830-6829","authenticated-orcid":false,"given":"Massimo","family":"Carella","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Fondazione IRCCS \u201cCasa Sollievo della Sofferenza\u201d, 71013 San Giovanni Rotondo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7990-3576","authenticated-orcid":false,"given":"Andrea","family":"Riccio","sequence":"additional","affiliation":[{"name":"Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Universit\u00e0 degli Studi della Campania \u201cLuigi Vanvitelli\u201d, 81100 Caserta, Italy"},{"name":"Institute of Genetics and Biophysics (IGB) \u201cAdriano Buzzati-Traverso\u201d, Consiglio Nazionale delle Ricerche (CNR), 80131 Napoli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3794-3021","authenticated-orcid":false,"given":"Flavia","family":"Cerrato","sequence":"additional","affiliation":[{"name":"Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Universit\u00e0 degli Studi della Campania \u201cLuigi Vanvitelli\u201d, 81100 Caserta, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,4,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1136\/jmedgenet-2014-102979","article-title":"A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome","volume":"52","author":"Azzi","year":"2015","journal-title":"J. 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