{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T19:22:31Z","timestamp":1778872951988,"version":"3.51.4"},"reference-count":23,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,3,30]],"date-time":"2015-03-30T00:00:00Z","timestamp":1427673600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"NICHD","award":["5 P30 HD024061"],"award-info":[{"award-number":["5 P30 HD024061"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>We describe a 0.73\u2009Mb duplication of chromosome 22q11.21 between LCR\u2010B and LCR\u2010D and a missense mutation in a conserved C2H2 zinc finger domain of <jats:italic>SALL4<\/jats:italic> in a cognitively normal patient with multiple skeletal anomalies including radioulnar synostosis, thumb aplasia, butterfly vertebrae, rib abnormalities, and hypoplasia of the humeral and femoral epiphyses. 22q11.21 is a common site for microdeletions and their reciprocal microduplications as a result of non\u2010allelic homologous recombination between its multiple low copy repeat regions (LCR). DiGeorge \/Velocardiofacial syndrome (DG\/VCFS) is classically caused by a 3\u2009Mb deletion between LCR\u2010A and LCR\u2010D or a 1.5\u2009Mb deletion between LCR\u2010A and LCR\u2010B. The reciprocal syndrome to DG\/VCFS is the recently described 22q11.2 microduplication, which usually presents with the typical 3\u2009Mb or 1.5\u2009Mb duplication. Numerous atypical deletions and duplications have been reported between other LCRs. Typically, <jats:italic>SALL4<\/jats:italic>\u2010related Duane\u2010radial ray syndrome is caused by deletions or nonsense mutations; the only missense <jats:italic>SALL4<\/jats:italic> mutation described prior was thought to result in gain of function and produced cranial midline defects. The skeletal anomalies presented in this report have not been previously described in association with 22q11.2 microduplication nor <jats:italic>SALL4<\/jats:italic> mutations. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37066","type":"journal-article","created":{"date-parts":[[2015,3,30]],"date-time":"2015-03-30T23:05:26Z","timestamp":1427756726000},"page":"1644-1649","source":"Crossref","is-referenced-by-count":13,"title":["An atypical 0.73 MB microduplication of 22q11.21 and a novel <i>SALL4<\/i> missense mutation associated with thumb agenesis and radioulnar synostosis"],"prefix":"10.1002","volume":"167","author":[{"given":"Adam","family":"Diehl","sequence":"first","affiliation":[{"name":"School of Medicine Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weiyi","family":"Mu","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise","family":"Batista","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland"},{"name":"Cytogenetics and Microarray Laboratory Kennedy Krieger Institute Baltimore Maryland"},{"name":"Department of Pathology Johns Hopkins University Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meral","family":"Gunay\u2010Aygun","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland"},{"name":"Department of Pediatrics Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,3,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00750.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2014.01.027"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.09.005"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp042"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32572"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/378818"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20581"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-10-48"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12242"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.7.473"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20215"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0b013e3182060469"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-0124-7"},{"key":"e_1_2_6_15_1","unstructured":"Online Mendelian Inheritance in Man OMIM\u00ae. 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