{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T13:44:53Z","timestamp":1791121493980,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2012,11,20]],"date-time":"2012-11-20T00:00:00Z","timestamp":1353369600000},"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":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Split\u2010hand\/split\u2010foot malformation (SHFM1) has been reported to be caused by deletions, duplications or rearrangements involving the 7q21.3 region harboring\n                    <jats:italic>DSS1<\/jats:italic>\n                    ,\n                    <jats:italic>DLX5<\/jats:italic>\n                    , and\n                    <jats:italic>DLX6<\/jats:italic>\n                    . We report on a female patient with unilateral syndactyly of the third and fourth fingers of the right hand and overgrowth and lateral deviation of the right great toe. There was a split foot malformation on the right, with absent fifth toe. The left hand was apparently normal and left foot was intact. The patient has no hearing loss. We performed conventional G\u2010banding karyotype analysis, array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization (FISH). G\u2010banding karyotype result was normal 46,XX. However, a duplication of 719\u2009kb (96,303,736\u201397,022,335; NCBI build36\/hg18, March 2006) was identified at the 7q21.3 region by aCGH. The array result was also confirmed by FISH analysis. The duplicated region harbors only\n                    <jats:italic>DLX5<\/jats:italic>\n                    and\n                    <jats:italic>DLX6<\/jats:italic>\n                    , which are known for their role in SHFM1. Additionally, FISH analysis of parental samples showed de novo origin of this abnormality in the patient. This is the first report that highlights the duplication of 719\u2009kb at 7q21.3, harboring only\n                    <jats:italic>DLX5<\/jats:italic>\n                    and\n                    <jats:italic>DLX6<\/jats:italic>\n                    associated with the SHFM1 phenotype. \u00a9 2012 Wiley Periodicals, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.35644","type":"journal-article","created":{"date-parts":[[2012,11,20]],"date-time":"2012-11-20T10:16:26Z","timestamp":1353406586000},"page":"3201-3206","source":"Crossref","is-referenced-by-count":13,"title":["A 0.7\u2009Mb de novo duplication at 7q21.3 including the genes\n                    <i>DLX5<\/i>\n                    and\n                    <i>DLX6<\/i>\n                    in a patient with split\u2010hand\/split\u2010foot malformation"],"prefix":"10.1002","volume":"158A","author":[{"given":"Milen","family":"Velinov","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ausaf","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigette","family":"Brown\u2010Kipphut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa","family":"Shafiq","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Blau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruby","family":"Cooma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Roth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Anwar","family":"Iqbal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,11,20]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00591081"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00153.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550204"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.5.375"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.5.571"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg212"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1432-1327.1999.00267.x"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1075703"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.104.036871"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2007.11.005"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.065888"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg090"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31244"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31246"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00369.x"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/302972"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.6.507"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01698.x"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2004.05.001"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/gene.10098"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.7.479"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.988402"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32877"},{"key":"e_1_2_5_25_1","first-page":"12","article-title":"Fine mapping of the autosomal dominant split hand\/split foot locus on chromosome 7, band q21.3\u2013q22.1","volume":"55","author":"Scherer SW","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100556"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.72"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.010587"}],"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.35644","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35644","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T08:44:59Z","timestamp":1697618699000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35644"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11,20]]},"references-count":27,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["10.1002\/ajmg.a.35644"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35644","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,11,20]]}}}