{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:44:17Z","timestamp":1764171857591},"reference-count":31,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2006,6,7]],"date-time":"2006-06-07T00:00:00Z","timestamp":1149638400000},"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":[[2006,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Split\u2010hand\/foot malformation (SHFM), or ectrodactyly, is characterized by underdeveloped or absent central digital rays, clefts of the hands and feet, and variable syndactyly of the remaining digits. SHFM occurs as both an isolated finding and a component of many syndromes. SHFM is a heterogeneous condition caused by multiple loci, including SHFM1 (chromosome region 7q21\u2010q22), SHFM2 (Xq26), SHFM3 (10q24), SHFM4 (3q27), and SHFM5 (2q31). Mutations in <jats:italic>TP63<\/jats:italic> at the SHFM4 locus are known to underlie both syndromic and non\u2010syndromic forms SHFM, but the causes of most non\u2010syndromic SHFM cases remain unknown. The recent identification of submicroscopic tandem chromosome duplications affecting the SHFM3 locus in seven families with non\u2010syndromic SHFM has helped to further unravel the molecular basis of this malformation. In our ongoing studies of the SHFM3 locus in 44 additional cases of syndromic and non\u2010syndromic SHFM, we have identified similar chromosome rearrangements in eight additional cases (18%), using pulsed\u2010field gel electrophoresis (PFGE). We have also utilized real\u2010time quantitative PCR (qPCR) to test for the duplications. Seven of the cases with rearrangements were non\u2010syndromic. The current findings bring the total of SHFM3\u2010associated cases with chromosome rearrangements to 15, which constitute 29% (15 of 51) of the cases screened to date. This includes 9 of 9 cases (100%) with known linkage to the SHFM3 locus, all of whom have non\u2010syndromic SHFM, and 6 of 42 additional cases (14%), four of whom have non\u2010syndromic SHFM. Thus, SHFM3 abnormalities underlie a substantial proportion of SHFM cases and appear to be a more frequent cause of non\u2010syndromic SHFM than mutations in <jats:italic>TP63<\/jats:italic>. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31246","type":"journal-article","created":{"date-parts":[[2006,6,7]],"date-time":"2006-06-07T20:03:21Z","timestamp":1149710601000},"page":"1375-1383","source":"Crossref","is-referenced-by-count":25,"title":["Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non\u2010syndromic split\u2010hand\/foot malformation"],"prefix":"10.1002","volume":"140A","author":[{"given":"David B.","family":"Everman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chad T.","family":"Morgan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Lyle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary E.","family":"Laughridge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J.","family":"Bamshad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katie B.","family":"Clarkson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Randall","family":"Colby","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fiorella","family":"Gurrieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. 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