{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T04:15:40Z","timestamp":1778732140490,"version":"3.51.4"},"reference-count":32,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,12]]},"abstract":"<jats:p>Fluorescence in situ hybridisation (FISH) and conventional chromosome analysis were performed on a series of 52 patients with classical Williams-Beuren syndrome (WBS), suspected WBS, or supravalvular aortic stenosis (SVAS). In the classical WBS group, 22\/23 (96%) had a submicroscopic deletion of the elastin locus on chromosome 7, but the remaining patient had a unique interstitial deletion of chromosome 11 (del(11)(q13.5q14.2)). In the suspected WBS group 2\/22 (9%) patients had elastin deletions but a third patient had a complex karyotype including a ring chromosome 22 with a deletion of the long arm (r(22)(p11--&gt;q13)). In the SVAS group, 1\/7 (14%) had an elastin gene deletion, despite having normal development and minimal signs of WBS. Overall, some patients with submicroscopic elastin deletions have fewer features of Williams-Beuren syndrome than those with other cytogenetic abnormalities. These results, therefore, emphasise the importance of a combined conventional and molecular cytogenetic approach to diagnosis and suggest that the degree to which submicroscopic deletions of chromosome 7 extend beyond the elastin locus may explain some of the phenotypic variability found in Williams-Beuren syndrome.<\/jats:p>","DOI":"10.1136\/jmg.33.12.986","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"986-992","source":"Crossref","is-referenced-by-count":36,"title":["Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients."],"prefix":"10.1136","volume":"33","author":[{"given":"C A","family":"Joyce","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Zorich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S J","family":"Pike","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J C","family":"Barber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N R","family":"Dennis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,12,1]]},"reference":[{"issue":"24","key":"ref_1","first-page":"1311","article-title":"Supravalvular aortic stenosis","volume":"1961","author":"Williams, J.C.P.; Barratt-Boyes, B.G.; Lowe, J.B.","unstructured":"Williams JCP, Barratt-Boyes BG, Lowe JB. 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Proc Natl Acad Sci USA 1993;90:3226-30."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/0092-8674(93)90168-P","article-title":"The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis","volume":"73","author":"Curran, M.E.; Atkinson, D.L.; Ewart, A.K.; Morris, C.A.; Leppert, M.F.; Keating, M.T.","year":"1993","unstructured":"Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, Keating MT. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 1993;73:159-68.","journal-title":"Cell"},{"key":"ref_13","article-title":"Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene","author":"Morris, C.A.; Locker, J.; Ensing, G.; Stock, A.D.","year":"1993","unstructured":"Morris CA, Locker J, Ensing G, Stock AD. Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene. Am _7 Med Genet 1993;46:73744. If WBS is a contiguous gene disorder with deletion ofgenes other than elastin contributing to mental retardation and the WBS personality, variability in the extent of the deletion could be a significant factor in determining the considerable phenotypic variability seen in this","journal-title":"Am _7 Med Genet; 46: 73744. If WBS is a contiguous gene disorder with deletion ofgenes other than elastin contributing to mental retardation and the WBS personality, variability in the extent of the deletion could be a significant factor in determining the considerable phenotypic variability seen in this"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/ng0993-11","article-title":"Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome","volume":"5","author":"Ewart, A.K.; Morris, C.A.; Atkinson, D.","year":"1993","unstructured":"Ewart AK, Morris CA, Atkinson D, et al. 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