{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T06:09:30Z","timestamp":1759730970599},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,4,4]],"date-time":"2005-04-04T00:00:00Z","timestamp":1112572800000},"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":[[2005,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Holt\u2013Oram syndrome, the major \u201cheart\u2013hand\u201d syndrome is defined by the association of radial defects or triphalangeal thumbs and septal heart defects. The transmission is autosomal dominant and the causative gene has been shown to be <jats:italic>TBX5<\/jats:italic>, located on 12q24.1, which encodes a transcription factor. Genetic heterogeneity has been suggested by several reports. We identified a 14(q23.3\u2009\u223c\u200924.2q31.1) deletion in a boy presenting severe bilateral asymmetrical radial aplasia, congenital heart defects, and developmental delay. This deletion, whose size could be estimated to be 9.6\u201313.7 Mb, was shown to be inherited via his mother's interchromosomal insertion. This is the second report of a chromosome 14 interstitial deletion associated with clinical features of Holt\u2013Oram syndrome. These observations suggest the existence of a new \u201cheart\u2013hand\u201d locus on chromosome 14q. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30660","type":"journal-article","created":{"date-parts":[[2005,4,4]],"date-time":"2005-04-04T20:47:27Z","timestamp":1112647647000},"page":"439-442","source":"Crossref","is-referenced-by-count":14,"title":["Molecular characterization of a 14q deletion in a boy with features of Holt\u2013Oram syndrome"],"prefix":"10.1002","volume":"134A","author":[{"given":"Nathalie","family":"Le Meur","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Goldenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Michel\u2010Adde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Drouin\u2010Garraud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00e9rard","family":"Blaysat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"St\u00e9phane","family":"Marret","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saad Abu","family":"Amara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9l\u00e8ne","family":"Moirot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00e9raldine","family":"Joly\u2010H\u00e9las","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bertrand","family":"Mace","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascale","family":"Kleinfinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascale","family":"Saugier\u2010Veber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry","family":"Fr\u00e9bourg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annick","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,4,4]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199403313301302"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-30"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0494-405"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/376436"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1999.9298"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.7.564"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2002.0731"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.10.785"},{"key":"e_1_2_6_10_1","first-page":"323","article-title":"Holt\u2013Oram syndrome with associated postaxial and central polydactyly. 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