{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T13:33:56Z","timestamp":1756992836351},"reference-count":39,"publisher":"Wiley","issue":"24","license":[{"start":{"date-parts":[[2007,10,22]],"date-time":"2007-10-22T00:00:00Z","timestamp":1193011200000},"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":[[2007,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Distal 5q\u2010trisomy has been reported in less than 30 patients, with craniosynostosis present in five. We report two new patients with distal 5q\u2010trisomy craniosynostosis. Patient 1 had mild Kleeblattsch\u00e4del with synostosis of multiple sutures together with wide and medially deviated thumbs and halluces, indicative of Pfeiffer syndrome. Cytogenetic and CGH analyses showed a karyotype of 46,XY,der(10)t(5;10)(q33;q26.3). Patient 2 had a prominent forehead and ridging of the metopic suture. Craniosynostosis of the metopic suture was shown by CT scan. Cytogenetic and CGH analyses disclosed a karyotype of 46,XX,der(17)t(5;17)(q35.1;p13.3). Of the 22 previously reported patients, all had microcephaly and 14 had an abnormal skull shape. Our results support the previous finding that distal 5q\u2010trisomy together with an extra copy of the <jats:italic>MSX2<\/jats:italic> gene leads to abnormal closure of sutures and craniosynostosis. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31946","type":"journal-article","created":{"date-parts":[[2007,10,22]],"date-time":"2007-10-22T15:45:42Z","timestamp":1193067942000},"page":"2931-2936","source":"Crossref","is-referenced-by-count":19,"title":["Craniosynostosis associated with distal 5q\u2010trisomy: Further evidence that extra copy of <i>MSX2<\/i> gene leads to craniosynostosis"],"prefix":"10.1002","volume":"143A","author":[{"given":"Jia\u2010Chi","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle","family":"Steinraths","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda","family":"Dang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brenda","family":"Lomax","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrice","family":"Eydoux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tracy","family":"Stockley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siu\u2010Li","family":"Yong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margot 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