{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T10:37:27Z","timestamp":1778582247812,"version":"3.51.4"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,6,17]],"date-time":"2013-06-17T00:00:00Z","timestamp":1371427200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:p>The disorders caused by mutations in genes encoding subunits and accessory proteins of cohesin complex are collectively termed as cohesinopathies. The best known cohesinopathy is Cornelia de Lange Syndrome (<jats:styled-content style=\"fixed-case\">CdLS<\/jats:styled-content>), which is a multisystem developmental disorder characterized by facial dysmorphism, limb malformations, growth and cognitive impairment. Mutations in five genes, encoding subunits of the cohesin complex (<jats:italic><jats:styled-content style=\"fixed-case\">SMC1A<\/jats:styled-content>, <jats:styled-content style=\"fixed-case\">SMC3<\/jats:styled-content>, <jats:styled-content style=\"fixed-case\">RAD21<\/jats:styled-content><\/jats:italic>) and its regulators (<jats:italic><jats:styled-content style=\"fixed-case\">NIPBL<\/jats:styled-content>, <jats:styled-content style=\"fixed-case\">HDAC8<\/jats:styled-content><\/jats:italic>), are responsible for \u223c70% of <jats:styled-content style=\"fixed-case\">CdLS<\/jats:styled-content> cases. We describe a 16\u2010year\u2010old boy with facial dysmorphism, growth retardation, intellectual disability, hirsutism and small hands, who has a small Supernumerary Marker Chromosome (<jats:styled-content style=\"fixed-case\">sSMC<\/jats:styled-content>) present in mosaic form. <jats:styled-content style=\"fixed-case\">sSMC<\/jats:styled-content> is composed of two duplicated segments encompassing 17 genes including <jats:italic><jats:styled-content style=\"fixed-case\">SMC1A<\/jats:styled-content><\/jats:italic> gene, at the regions Xp11.22 and Xp11.21q11.1. Clinical comparison between our patient with a previously reported individual with a <jats:italic><jats:styled-content style=\"fixed-case\">SMC1A<\/jats:styled-content><\/jats:italic> duplication and four male carriers of similar <jats:styled-content style=\"fixed-case\">sSMC<\/jats:styled-content> reported in databases, suggest that they all share clinical features related to cohesinopathies. Although our patient does not have the classical <jats:styled-content style=\"fixed-case\">CdLS<\/jats:styled-content> craniofacial phenotype, he has pre and postnatal growth retardation, intellectual disability and mild musculoskeletal anomalies, features commonly seen in patients with cohesinopathies.<\/jats:p>","DOI":"10.1111\/cge.12194","type":"journal-article","created":{"date-parts":[[2013,5,17]],"date-time":"2013-05-17T18:23:08Z","timestamp":1368814988000},"page":"446-451","source":"Crossref","is-referenced-by-count":12,"title":["Could a patient with <i><scp>SMC1A<\/scp><\/i> duplication be\u00a0classified as a human cohesinopathy?"],"prefix":"10.1111","volume":"85","author":[{"given":"C.","family":"Baquero\u2010Montoya","sequence":"first","affiliation":[{"name":"Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology\u2010Physiology and Pediatrics, Medical School University of Zaragoza Zaragoza Spain"},{"name":"Service of Pediatrics Hospital Cl\u00ednico Universitario \u201cLozano Blesa\u201d Zaragoza Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.C.","family":"Gil\u2010Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology\u2010Physiology and Pediatrics, Medical School University of Zaragoza Zaragoza Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.E.","family":"Teresa\u2010Rodrigo","sequence":"additional","affiliation":[{"name":"Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology\u2010Physiology and Pediatrics, Medical School University of Zaragoza Zaragoza Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Hern\u00e1ndez\u2010Marcos","sequence":"additional","affiliation":[{"name":"Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology\u2010Physiology and Pediatrics, Medical School University of Zaragoza Zaragoza 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