{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T02:04:49Z","timestamp":1789524289026,"version":"build-2803163510"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,9,12]],"date-time":"2016-09-12T00:00:00Z","timestamp":1473638400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that primarily involves skeletal, ocular, and cardiovascular systems with large inter\u2010 and intra\u2010familial variability in terms of age of onset, severity, and aortic disease. The causal gene, <jats:italic>FBN1<\/jats:italic>, encodes for fibrillin 1, a multi\u2010domain glycoprotein essential for many biological functions, including deposition and formation of elastic fibers. Reports describing chromosomal alterations involving <jats:italic>FBN1<\/jats:italic> are rare, but in the last years their number has increased after copy number state analyses, such as multiplex ligation\u2010dependent probe amplification and microarray\u2010based comparative genomic hybridization, were adopted as routine diagnostic tools. Herein we report a patient with MFS and an atypical facial appearance and neuropsychiatric involvement likely not attributable to MFS due to a 15q21.1 deletion that involves part of <jats:italic>FBN1<\/jats:italic> and 13 additional contiguous genes listed in OMIM. We compare his phenotype with those of the few patients described in the literature who share similar 15q11.2 deletions. This report expands the phenotype of patients with 15q11.2 deletion involving <jats:italic>FBN1<\/jats:italic> and its contiguous genes, and suggests a possible role for these other genes in the pathogenesis of the observed unusual clinical signs that are not explained by <jats:italic>FBN1<\/jats:italic> haploinsufficiency. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37975","type":"journal-article","created":{"date-parts":[[2016,9,12]],"date-time":"2016-09-12T12:07:32Z","timestamp":1473682052000},"page":"200-206","source":"Crossref","is-referenced-by-count":11,"title":["Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing <i>FBN1<\/i>, and literature review"],"prefix":"10.1002","volume":"173","author":[{"given":"Chiara","family":"Dordoni","sequence":"first","affiliation":[{"name":"Division of Biology and Genetics Department of Molecular and Translational Medicine School of Medicine University of 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Istituti Ospitalieri Medical Genetics Cremona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Ritelli","sequence":"additional","affiliation":[{"name":"Division of Biology and Genetics Department of Molecular and Translational Medicine School of Medicine University of Brescia Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Colombi","sequence":"additional","affiliation":[{"name":"Division of Biology and Genetics Department of Molecular and Translational Medicine School of Medicine University of Brescia Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,9,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31202"},{"key":"e_1_2_6_3_1","article-title":"Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]","volume":"18","author":"Arslan\u2010Kirchner 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