{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T18:00:17Z","timestamp":1790791217999,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,12,26]],"date-time":"2018-12-26T00:00:00Z","timestamp":1545782400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Associazione Italiana Sindrome di Shwachman"},{"name":"Fondazione Banca del Monte di Lombardia"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>In Shwachman\u2010Diamond syndrome (<jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content>), deletion of the long arm of chromosome 20, del(20)(q), often acquired in bone marrow (<jats:styled-content style=\"fixed-case\">BM<\/jats:styled-content>), may imply a lower risk of developing myelodysplastic syndrome\/acute myeloid leukaemia (<jats:styled-content style=\"fixed-case\">MDS<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">AML<\/jats:styled-content>), due to the loss of the <jats:italic><jats:styled-content style=\"fixed-case\">EIF<\/jats:styled-content>6<\/jats:italic> gene. The genes <jats:italic>L3<jats:styled-content style=\"fixed-case\">MBTL<\/jats:styled-content>1<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">SGK<\/jats:styled-content>2<\/jats:italic>, also on chromosome 20, are in a cluster of imprinted genes, and their loss implies dysregulation of <jats:styled-content style=\"fixed-case\">BM<\/jats:styled-content> function. We report here the results of array comparative genomic hybridization (a\u2010<jats:styled-content style=\"fixed-case\">CGH<\/jats:styled-content>) performed on <jats:styled-content style=\"fixed-case\">BM DNA<\/jats:styled-content> of six patients which confirmed the consistent loss of <jats:italic><jats:styled-content style=\"fixed-case\">EIF<\/jats:styled-content>6<\/jats:italic> gene. Interestingly, array single nucleotide polymorphisms (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s) showed copy neutral loss of heterozygosity for <jats:italic><jats:styled-content style=\"fixed-case\">EIF<\/jats:styled-content>6<\/jats:italic> region in cases without del(20)(q). No preferential parental origin of the deleted chromosome 20 was detected by microsatellite analysis in six <jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content> patients. Our patients showed a very mild haematological condition, and none evolved into <jats:styled-content style=\"fixed-case\">BM<\/jats:styled-content> aplasia or <jats:styled-content style=\"fixed-case\">MDS<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">AML<\/jats:styled-content>. We extend the benign prognostic significance of del(20)(q) and loss of <jats:italic><jats:styled-content style=\"fixed-case\">EIF<\/jats:styled-content>6<\/jats:italic> to the haematological features of these patients, consistently characterized by mild hypoplastic <jats:styled-content style=\"fixed-case\">BM<\/jats:styled-content>, no or mild neutropenia, anaemia and thrombocytopenia. Some odd results obtained in microsatellite and <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>\u2010array analysis demonstrate a peculiar genomic instability, in an attempt to improve <jats:styled-content style=\"fixed-case\">BM<\/jats:styled-content> function through the acquisition of the del(20)(q).<\/jats:p>","DOI":"10.1111\/bjh.15729","type":"journal-article","created":{"date-parts":[[2018,12,26]],"date-time":"2018-12-26T10:30:22Z","timestamp":1545820222000},"page":"974-981","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Shwachman\u2010Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability"],"prefix":"10.1111","volume":"184","author":[{"given":"Roberto","family":"Valli","sequence":"first","affiliation":[{"name":"Genetica Umana e Medica Dipartimento di Medicina e Chirurgia Universit\u00e0 dell'Insubria Varese Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0066-5195","authenticated-orcid":false,"given":"Antonella","family":"Minelli","sequence":"additional","affiliation":[{"name":"Genetica Medica Fondazione IRCCS Policlinico S. Matteo and Universit\u00e0 di Pavia Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Galbiati","sequence":"additional","affiliation":[{"name":"Immunology and Cell Therapy Centro Ricerca Tettamanti Paediatric Clinic University of Milan Bicocca\/MBBM Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7809-7269","authenticated-orcid":false,"given":"Giovanna","family":"D'Amico","sequence":"additional","affiliation":[{"name":"Immunology and Cell Therapy Centro Ricerca Tettamanti Paediatric Clinic University of Milan Bicocca\/MBBM Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Frattini","sequence":"additional","affiliation":[{"name":"Genetica Umana e Medica Dipartimento di Medicina e Chirurgia Universit\u00e0 dell'Insubria Varese Italy"},{"name":"Istituto di Ricerca Genetica e Biomedica CNR Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Montalbano","sequence":"additional","affiliation":[{"name":"Genetica Umana e Medica Dipartimento di Medicina e Chirurgia Universit\u00e0 dell'Insubria Varese Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdul W.","family":"Khan","sequence":"additional","affiliation":[{"name":"Genetica Umana e Medica Dipartimento di Medicina e Chirurgia Universit\u00e0 dell'Insubria Varese Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Porta","sequence":"additional","affiliation":[{"name":"Genetica Umana e Medica Dipartimento di Medicina e Chirurgia Universit\u00e0 dell'Insubria Varese Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Millefanti","sequence":"additional","affiliation":[{"name":"Genetica Umana e Medica Dipartimento di Medicina e Chirurgia Universit\u00e0 dell'Insubria Varese Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Olivieri","sequence":"additional","affiliation":[{"name":"Genetica Medica Fondazione IRCCS Policlinico S. 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