{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T07:00:10Z","timestamp":1775113210128,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,11,25]],"date-time":"2024-11-25T00:00:00Z","timestamp":1732492800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Marfan syndrome (MFS) is a well\u2010characterized rare genetic connective tissue disorder. The features of MFS are primarily skeletal, ocular, and cardiovascular and are mainly caused by single\u2010nucleotide variants (SNVs) in the\n                    <jats:italic>FBN1<\/jats:italic>\n                    gene (MIM#134797) located on chromosome 15q21.1. We describe two patients, a 26\u2010year\u2010old male and a 10\u2010year\u2010old female from unrelated distinct families, with clinically diagnosed sporadic MFS. After years of unsuccessful molecular diagnosis for genetic counseling purposes, genome sequencing was performed and revealed a balanced translocation in both patients:\n                    <jats:italic>de novo<\/jats:italic>\n                    t(9;15)(p13.3;q21.1) translocation in the male patient, and\n                    <jats:italic>de novo<\/jats:italic>\n                    t(15;16)(q21.1;p13.13) translocation in the female patient, respectively, disrupting intron 40 and 45 of\n                    <jats:italic>FBN1<\/jats:italic>\n                    . The other breakpoints were not clinically relevant. These translocations were confirmed by specific fluorescence in\u00a0situ hybridization probes and conventional karyotyping. In the literature, only one family has been described, leading to four cases of MFS caused by balanced translocations. Genetic counseling for balanced translocations differs from SNVs and even interstitial deletions since it is not restricted to MFS recurrence, but also involves the risk of unbalanced gametes, leading to miscarriage or unbalanced progeny. In case of clinical certainty, MFS patients should be screened for balanced translocations to ensure appropriate genetic counseling.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63923","type":"journal-article","created":{"date-parts":[[2024,11,25]],"date-time":"2024-11-25T05:34:38Z","timestamp":1732512878000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["<i>De Novo<\/i>\n                    Balanced Translocations Disrupting the\n                    <scp>\n                      <i>FBN1<\/i>\n                    <\/scp>\n                    Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2378-5982","authenticated-orcid":false,"given":"C.","family":"Racine","sequence":"first","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs, FHU TRANSLAD, H\u00f4pital d'Enfants, CHU Dijon  Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Callier","sequence":"additional","affiliation":[{"name":"UMR1231 GAD, Inserm\u2013Universit\u00e9 Bourgogne\u2010Franche Comt\u00e9  Dijon France"},{"name":"Unit\u00e9 Fonctionnelle Innovation en Diagnostic g\u00e9nomique Des Maladies Rares FHU\u2010TRANSLAD, CHU Dijon Bourgogne  Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Touraine","sequence":"additional","affiliation":[{"name":"Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire, CHU Clermont\u2010Ferrand, Laboratoire AURAGEN (Plan France M\u00e9decine G\u00e9nomique 2025)  Clermont\u2010Ferrand France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3717-8374","authenticated-orcid":false,"given":"A.","family":"Vitobello","sequence":"additional","affiliation":[{"name":"UMR1231 GAD, Inserm\u2013Universit\u00e9 Bourgogne\u2010Franche Comt\u00e9  Dijon France"},{"name":"Unit\u00e9 Fonctionnelle Innovation en Diagnostic g\u00e9nomique Des Maladies Rares FHU\u2010TRANSLAD, CHU Dijon Bourgogne  Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Hanna","sequence":"additional","affiliation":[{"name":"Laboratory for Vascular Translational Science INSERM U1148, Universit\u00e9 Paris Cit\u00e9, H\u00f4pital Bichat, APHP  Paris France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique Centre de r\u00e9f\u00e9rence Syndrome de Marfan et Pathologies apparent\u00e9s, APHP, H\u00f4pital Bichat  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Arnaud","sequence":"additional","affiliation":[{"name":"Laboratory for Vascular Translational Science INSERM U1148, Universit\u00e9 Paris Cit\u00e9, H\u00f4pital Bichat, APHP  Paris France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique Centre de r\u00e9f\u00e9rence Syndrome de Marfan et Pathologies apparent\u00e9s, APHP, H\u00f4pital Bichat  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Jondeau","sequence":"additional","affiliation":[{"name":"Laboratory for Vascular Translational Science INSERM U1148, Universit\u00e9 Paris Cit\u00e9, H\u00f4pital Bichat, APHP  Paris France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique Centre de r\u00e9f\u00e9rence Syndrome de Marfan et Pathologies apparent\u00e9s, APHP, H\u00f4pital Bichat  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Boileau","sequence":"additional","affiliation":[{"name":"Laboratory for Vascular Translational Science INSERM U1148, Universit\u00e9 Paris Cit\u00e9, H\u00f4pital Bichat, APHP  Paris France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique Centre de r\u00e9f\u00e9rence Syndrome de Marfan et Pathologies apparent\u00e9s, APHP, H\u00f4pital Bichat  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Thauvin\u2010Robinet","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs, FHU TRANSLAD, H\u00f4pital d'Enfants, CHU Dijon  Dijon France"},{"name":"UMR1231 GAD, Inserm\u2013Universit\u00e9 Bourgogne\u2010Franche Comt\u00e9  Dijon France"},{"name":"Unit\u00e9 Fonctionnelle Innovation en Diagnostic g\u00e9nomique Des Maladies Rares FHU\u2010TRANSLAD, CHU Dijon Bourgogne  Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Creveaux","sequence":"additional","affiliation":[{"name":"Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire, CHU Clermont\u2010Ferrand, Laboratoire AURAGEN (Plan France M\u00e9decine G\u00e9nomique 2025)  Clermont\u2010Ferrand France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Gatinois","sequence":"additional","affiliation":[{"name":"Plateforme ChromoStem, Unit\u00e9 de g\u00e9n\u00e9tique Chromosomique, D\u00e9partement de g\u00e9n\u00e9tique mol\u00e9culaire et cytog\u00e9nomique CHU de Montpellier, Universit\u00e9 de Montpellier  Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2959-0935","authenticated-orcid":false,"given":"M.","family":"Willems","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale Maladies Rares et M\u00e9decine 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