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We report a 16\u2010month\u2010old female with early\u2010onset MFS heterozygous for an 11.2\u2009kb de novo duplication within the\n                    <jats:italic>FBN1<\/jats:italic>\n                    gene. Tandem location of the duplication was further confirmed by optical genome mapping in addition to genetic sequencing and chromosomal microarray. This is the third reported case of a large multi\u2010exon duplication in\n                    <jats:italic>FBN1<\/jats:italic>\n                    , and the only one confirmed to be in tandem. As the vast majority of pathogenic variants associated with MFS are point mutations, this expands the landscape of known\n                    <jats:italic>FBN1<\/jats:italic>\n                    pathogenic variants and supports consistent use of genetic testing strategies that can detect large, indel\u2010type variants.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63440","type":"journal-article","created":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T02:48:33Z","timestamp":1697424513000},"page":"368-373","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel de novo intragenic duplication in\n                    <scp>\n                      <i>FBN1<\/i>\n                    <\/scp>\n                    associated with early\u2010onset Marfan syndrome in a 16\u2010month\u2010old: A case report and review of the 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