{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T01:52:43Z","timestamp":1773193963512,"version":"3.50.1"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T00:00:00Z","timestamp":1773014400000},"content-version":"vor","delay-in-days":67,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the fibrillin\u20101 (\n                    <jats:italic>FBN1<\/jats:italic>\n                    ) gene on Chromosome 15q21.1. A 3\u2010year\u2010old female presented to the clinic with MFS and a family history of an affected maternal uncle and maternal great\u2010aunt. The proband and the uncle had a positive thoracic aortic aneurysm and dissection (TAAD) panel for MFS revealing an\n                    <jats:italic>FBN1<\/jats:italic>\n                    deletion. This was confirmed on proband\u2019s chromosome microarray; however, the mother was negative for the\n                    <jats:italic>FBN1<\/jats:italic>\n                    deletion. Fluorescence in situ hybridization (FISH) was used in this case to show a unique chromosome rearrangement in the unaffected mother with an insertional translocation of the 15q21.1 loci (\n                    <jats:italic>FBN1<\/jats:italic>\n                    ) to Chromosome 7p. This led to an affected child who inherited the nontranslocated Chromosome 7 and the 15q21 (\n                    <jats:italic>FBN1<\/jats:italic>\n                    ) deletion. Thus, individuals in the family inheriting Chromosome 7 with the\n                    <jats:italic>FBN1<\/jats:italic>\n                    insertional translocation are protected from the MFS phenotype. This supports the known autosomal dominant inheritance pattern while allowing for uncharacteristic skipping of generations of MFS in this family.\n                  <\/jats:p>","DOI":"10.1155\/crig\/1611720","type":"journal-article","created":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T05:23:37Z","timestamp":1773120217000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel Generation\u2010Skipping Inheritance Pattern of Marfan Syndrome Due to\n                    <i>FBN1<\/i>\n                    Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2014-9219","authenticated-orcid":false,"given":"Breanna","family":"Beers","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-0428-0592","authenticated-orcid":false,"given":"Hamilton","family":"Wexler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4286-0693","authenticated-orcid":false,"given":"Gretchen","family":"MacCarrick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,3,9]]},"reference":[{"key":"e_1_2_8_1_2","first-page":"220","article-title":"Un Cas de Deformation Congenitale des Quatre Membres Plus Prononcee aux Extremites Characterisee par L\u2019Allongment des os Avec un Certain Degre D\u2019Amincissement","volume":"13","author":"Ab M.","year":"1896","journal-title":"Bulletins et Memoires de la Societe Medicale des Hopitaux de Paris"},{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2016.07.033"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"e_1_2_8_4_2","volume-title":"GeneReviews (\u00ae)","author":"Dietz H.","year":"1993"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes12111836"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-5-5"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.01.002"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000398"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/1611720","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crig\/1611720","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/1611720","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T05:23:38Z","timestamp":1773120218000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crig\/1611720"}},"subtitle":[],"editor":[{"given":"Aneek","family":"Das Bhowmik","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crig\/1611720"],"URL":"https:\/\/doi.org\/10.1155\/crig\/1611720","archive":["Portico"],"relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-10-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-29","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"1611720"}}