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We performed a full clinical, developmental and genetic assessment of two previously reported individuals with clinical symptoms and WBSinv\u20101 but no 7q11.23 deletion. We also examined expression of genes at 7q11.23 in individuals in the general population who have WBSinv\u20101. We show that individuals with clinical symptoms and WBSinv\u20101 do not show significant clinical or psychological overlap with individuals with WBS. In addition, a 1.3 Mb duplication of part of the velocardiofacial syndrome region on chromosome 22q11.2 was found in one participant with WBSinv\u20101 and clinical symptoms. We also demonstrate that individuals with WBSinv\u20101 show normal expression of genes from the WBS region. These results suggest that WBSinv\u20101 does not cause clinical symptoms and we advise caution when diagnosing individuals with atypical presentation of rare syndromes. Whole genome analysis may reveal previously unidentified copy number variants that could contribute to syndromic features. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32360","type":"journal-article","created":{"date-parts":[[2008,6,14]],"date-time":"2008-06-14T02:20:56Z","timestamp":1213410056000},"page":"1797-1806","source":"Crossref","is-referenced-by-count":25,"title":["The common inversion of the Williams\u2013Beuren syndrome region at 7q11.23 does not cause clinical symptoms"],"prefix":"10.1002","volume":"146A","author":[{"given":"Elaine","family":"Tam","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin J.","family":"Young","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colleen A.","family":"Morris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian R.","family":"Marshall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wayne","family":"Loo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen W.","family":"Scherer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolyn B.","family":"Mervis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucy R.","family":"Osborne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,6,13]]},"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":"10.1101\/gr.3944605"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02264"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/376565"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370621"},{"key":"e_1_2_6_7_1","volume-title":"Scales of independent behavior\u2014Revised","author":"Bruininks R","year":"1996"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0009-9163.2004.00202.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/073428299000800313"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/378818"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/498396"},{"key":"e_1_2_6_12_1","unstructured":"HobartHH GreggRG MervisCB RobinsonBF KimberleyKW RiosCM MorrisCA.2004.Heterozygotes for the microinversion of the Williams\u2010Beuren syndrome region have an increased risk for affected offspring. 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