{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T02:54:24Z","timestamp":1791082464681,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,9,21]],"date-time":"2016-09-21T00:00:00Z","timestamp":1474416000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:p>Shwachman\u2013Diamond syndrome (SDS) (OMIM 260400) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, skeletal, and hematological abnormalities and bone marrow (BM) dysfunction. Mutations in the <jats:italic>SBDS<\/jats:italic> gene cause SDS. Clonal chromosome anomalies are often present in BM, i(7)(q10) and del(20q) being the most frequent ones. We collected 6 SDS cases with del(20q): a cluster of imprinted genes, including <jats:italic>L3MBTL1<\/jats:italic> and <jats:italic>SGK2<\/jats:italic> is present in the deleted region. Only the paternal allele is expressed for these genes. Based on these data, we made the hypothesis that the loss of this region, in relation to parental origin of deletion, may be of relevance for the hematological phenotype. By comparing hematological data of our 6 cases with a group of 20 SDS patients without evidence of del(20q) in BM, we observed a significant difference for Hb levels (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.012), and a difference slightly above the significance level for RBC counts (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.053): in both cases the values were higher in patients with del(20q). We also report preliminary evidence for an increased number of BFU\u2010E colonies in cases with paternal deletion, data on the presence of the deletion in colonies and in mature circulating lymphocytes. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/gcc.22401","type":"journal-article","created":{"date-parts":[[2016,8,24]],"date-time":"2016-08-24T10:56:46Z","timestamp":1472036206000},"page":"51-58","source":"Crossref","is-referenced-by-count":14,"title":["Parental origin of the deletion del(20q) in Shwachman\u2010Diamond patients and loss of the paternally derived allele of the imprinted <i>L3MBTL1<\/i> gene"],"prefix":"10.1002","volume":"56","author":[{"given":"Lucia","family":"Nacci","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine University of Pavia Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Valli","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Insubria Varese Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Maria Pinto","sequence":"additional","affiliation":[{"name":"Ospedale Bambino Ges\u00f9 IRCCS Oncoematologia e Medicina Trasfusionale Roma Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Zecca","sequence":"additional","affiliation":[{"name":"Oncoematologia Pediatrica, Fondazione IRCCS Policlinico San Matteo Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Cipolli","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Centre, Azienda Ospedaliera Universitaria Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacopo","family":"Morini","sequence":"additional","affiliation":[{"name":"Department of Physics University of Pavia  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Cesaro","sequence":"additional","affiliation":[{"name":"Oncoematologia Pediatrica, Azienda Ospedaliera Universitaria Integrata Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Boveri","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Policlinico Anatomic Pathology Section San Matteo, Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vittorio","family":"Rosti","sequence":"additional","affiliation":[{"name":"IRCCS Policlinico San Matteo Center for the Study of Myelofibrosis, Biotechnology Research Area Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Corti","sequence":"additional","affiliation":[{"name":"Pediatrics Unit, Fondazione Medico e Brianza per il Bambino e la sua Mamma Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maura","family":"Ambroni","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Regional Center, Ospedale M. 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