{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T04:41:26Z","timestamp":1791348086317,"version":"4.3.1"},"reference-count":67,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,3,18]],"date-time":"2013-03-18T00:00:00Z","timestamp":1363564800000},"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":[[2013,12]]},"abstract":"<jats:p>The association of marfanoid habitus (<jats:styled-content style=\"fixed-case\">MH<\/jats:styled-content>) and intellectual disability (<jats:styled-content style=\"fixed-case\">ID<\/jats:styled-content>) has been reported in the literature, with overlapping presentations and genetic heterogeneity. A hundred patients (71 males and 29 females) with a <jats:styled-content style=\"fixed-case\">MH<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">ID<\/jats:styled-content> were recruited. Custom\u2010designed <jats:styled-content style=\"fixed-case\">244K<\/jats:styled-content> array\u2010<jats:styled-content style=\"fixed-case\">CGH<\/jats:styled-content> (Agilent\u00ae; Agilent Technologies Inc., Santa Clara, CA) and <jats:italic> <jats:styled-content style=\"fixed-case\">MED12<\/jats:styled-content>, <jats:styled-content style=\"fixed-case\">ZDHHC9<\/jats:styled-content>, <jats:styled-content style=\"fixed-case\">UPF3B<\/jats:styled-content>, <jats:styled-content style=\"fixed-case\">FBN1<\/jats:styled-content>, <jats:styled-content style=\"fixed-case\">TGFBR1<\/jats:styled-content><\/jats:italic> and <jats:italic> <jats:styled-content style=\"fixed-case\">TGFBR2<\/jats:styled-content><\/jats:italic> sequencing analyses were performed. Eighty patients could be classified as isolated <jats:styled-content style=\"fixed-case\">MH<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">ID<\/jats:styled-content>: 12 chromosomal imbalances, 1 <jats:italic> <jats:styled-content style=\"fixed-case\">FBN1<\/jats:styled-content><\/jats:italic> mutation and 1 possibly pathogenic <jats:italic> <jats:styled-content style=\"fixed-case\">MED12<\/jats:styled-content><\/jats:italic> mutation were found (17%). Twenty patients could be classified as <jats:styled-content style=\"fixed-case\">ID<\/jats:styled-content> with other extra\u2010skeletal features of the Marfan syndrome (<jats:styled-content style=\"fixed-case\">MFS<\/jats:styled-content>) spectrum: 4 pathogenic <jats:italic> <jats:styled-content style=\"fixed-case\">FBN1<\/jats:styled-content><\/jats:italic> mutations and 4 chromosomal imbalances were found (2 patients with both <jats:italic> <jats:styled-content style=\"fixed-case\">FBN1<\/jats:styled-content><\/jats:italic> mutation and chromosomal rearrangement) (29%). These results suggest either that there are more loci with genes yet to be discovered or that MH can also be a relatively non\u2010specific feature of patients with <jats:styled-content style=\"fixed-case\">ID<\/jats:styled-content>. The search for aortic complications is mandatory even if <jats:styled-content style=\"fixed-case\">MH<\/jats:styled-content> is associated with <jats:styled-content style=\"fixed-case\">ID<\/jats:styled-content> since <jats:italic>FBN1<\/jats:italic> mutations or rearrangements were found in some patients. The excess of males is in favour of the involvement of other X\u2010linked genes. Although it was impossible to make a diagnosis in 80% of patients, these results will improve genetic counselling in families.<\/jats:p>","DOI":"10.1111\/cge.12094","type":"journal-article","created":{"date-parts":[[2013,3,19]],"date-time":"2013-03-19T05:52:25Z","timestamp":1363672345000},"page":"507-521","source":"Crossref","is-referenced-by-count":29,"title":["Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability"],"prefix":"10.1111","volume":"84","author":[{"given":"P","family":"Callier","sequence":"first","affiliation":[{"name":"Service de Cytog\u00e9n\u00e9tique Plateau technique de Biologie, CHU  Dijon France"},{"name":"Equipe GAD, EA 4271 Universit\u00e9 de Bourgogne  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Aral","sequence":"additional","affiliation":[{"name":"Equipe GAD, EA 4271 Universit\u00e9 de Bourgogne  Dijon France"},{"name":"Laboratoire de Biologie 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