{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T21:36:15Z","timestamp":1755034575960,"version":"3.41.2"},"reference-count":11,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,12,22]],"date-time":"2023-12-22T00:00:00Z","timestamp":1703203200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Post\u2010zygotic mosaicism is a well\u2010known biological phenomenon characterized by the presence of genetically distinct lineages of cells in the same individual due to post\u2010zygotic de novo mutational events. It has been identified in about 13% of Cornelia de Lange (CdLS) syndrome patients with a molecular diagnosis, an unusual high frequency. Here, we report the case of a patient affected by classic CdLS harboring post\u2010zygotic mosaicism for two different likely pathogenic variants at the same nucleotide position in <jats:italic>NIPBL<\/jats:italic>. Double somatic mosaicism has never been reported in CdLS and only rarely recognized in human diseases. Possible pathogenetic mechanisms are discussed.<\/jats:p>","DOI":"10.1002\/ajmg.a.63512","type":"journal-article","created":{"date-parts":[[2023,12,23]],"date-time":"2023-12-23T02:13:17Z","timestamp":1703297597000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Double somatic mosaicism in <scp>Cornelia de Lange<\/scp> syndrome"],"prefix":"10.1002","volume":"194","author":[{"given":"Lidia","family":"Pezzani","sequence":"first","affiliation":[{"name":"Pediatria, ASST Papa Giovanni XXIII  Bergamo Italy"},{"name":"Genetica Clinica, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico  Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Pezzoli","sequence":"additional","affiliation":[{"name":"Laboratorio di Genetica Medica ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erica","family":"Rosina","sequence":"additional","affiliation":[{"name":"Laboratorio di Genetica Medica ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnese","family":"Scatigno","sequence":"additional","affiliation":[{"name":"Pediatria, ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Cereda","sequence":"additional","affiliation":[{"name":"Pediatria, ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camilla","family":"Lucca","sequence":"additional","affiliation":[{"name":"Laboratorio di Genetica Medica ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo","family":"Bellini","sequence":"additional","affiliation":[{"name":"Laboratorio di Genetica Medica ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Marchetti","sequence":"additional","affiliation":[{"name":"Laboratorio di Genetica Medica ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marzia","family":"Maino","sequence":"additional","affiliation":[{"name":"Patologia Neonatale, ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Mangili","sequence":"additional","affiliation":[{"name":"Patologia Neonatale, ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo","family":"Selicorni","sequence":"additional","affiliation":[{"name":"Pediatria, ASST Lariana, S. Fermo della Battaglia  Como Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4707-212X","authenticated-orcid":false,"given":"Maria","family":"Iascone","sequence":"additional","affiliation":[{"name":"Laboratorio di Genetica Medica ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,12,22]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104295"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-010-0944-y"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.109.110510"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101477"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63247"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-018-0031-0"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-021-94958-z"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000333"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-021-23500-6"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40635"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm098"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63512","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,15]],"date-time":"2025-05-15T13:58:25Z","timestamp":1747317505000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63512"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,22]]},"references-count":11,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["10.1002\/ajmg.a.63512"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63512","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2023,12,22]]},"assertion":[{"value":"2023-10-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-09","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63512"}}