{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T15:20:13Z","timestamp":1764688813035},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2011,5,12]],"date-time":"2011-05-12T00:00:00Z","timestamp":1305158400000},"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":[[2011,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on an infant with tetrasomy of 5q35.2\u20105q35.3, an interstitial triplication on one chromosome and normal complement on the other. The patient has some features of Hunter\u2013McAlpine syndrome including intrauterine growth retardation (IUGR), almond\u2010shaped eyes, epicanthal folds, and downturned mouth with thin vermillion of the upper lip. In addition, left ventricular noncompaction and absent thumbs were identified, which have never been described in Hunter\u2013McAlpine syndrome. This chromosome abnormality is distinct from those previously reported. Within this region of tetrasomy is <jats:italic>MSX2<\/jats:italic>, a highly conserved homeobox containing gene. Increased copies of <jats:italic>MSX2<\/jats:italic> have been previously associated with craniosynostosis. Our patient's only skeletal defect is absent thumbs, also potentially related to increased dosage of <jats:italic>MSX2<\/jats:italic> which is important for limb formation. In addition, <jats:italic>MSX2<\/jats:italic> is expressed in the developing heart and overexpression of this gene may disrupt the co\u2010regulation of other cardiac genes in this region, namely <jats:italic>CSX1<\/jats:italic>. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33997","type":"journal-article","created":{"date-parts":[[2011,5,12]],"date-time":"2011-05-12T21:40:21Z","timestamp":1305236421000},"page":"1409-1413","source":"Crossref","is-referenced-by-count":15,"title":["Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2\u20105q35.3: An association with Hunter\u2013McAlpine syndrome?"],"prefix":"10.1002","volume":"155","author":[{"given":"Elizabeth A.","family":"Sellars","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah L.","family":"Zimmerman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Smolarek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert J.","family":"Hopkin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,5,12]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"123","article-title":"Hunter\u2013McAlpine syndrome: Report of a third family","volume":"2","author":"Ades LC","year":"1993","journal-title":"Clin Dysmorphol"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.cr.7290185"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32092"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.24.20.9248-9261.2004"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.6.430"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00378.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1540-8167.2005.04365.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32949"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.13.6137"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990806)85:4<419::AID-AJMG21>3.0.CO;2-S"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1027"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31946"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/74224"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.8.1251"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e3282f1ecbc"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33997","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33997","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T18:08:59Z","timestamp":1697652539000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33997"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,5,12]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2011,6]]}},"alternative-id":["10.1002\/ajmg.a.33997"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33997","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,5,12]]}}}