{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T09:08:38Z","timestamp":1764493718493,"version":"3.40.4"},"reference-count":14,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2012]]},"abstract":"<jats:p>A small supernumerary marker chromosome (sSMC) derived from chromosome 22 is a relatively common cytogenetic finding. This sSMC typically results in tetrasomy for a chromosomal region that spans the chromosome 22p arm and the proximal 2 Mb of 22q11.21. Using classical cytogenetics, fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, and array techniques, 7 patients with sSMCs derived from chromosome 22 were studied: 4 non-related and 3 from the same family (mother, daughter, and son). The sSMCs in all patients were dicentric and bisatellited chromosomes with breakpoints in the chromosome 22 low-copy repeat A region, resulting in cat eye syndrome (CES) due to chromosome 22 partial tetrasomy 22pter\u2192q11.2 including the cat eye chromosome region. Although all subjects presented the same chromosomal abnormality, they showed a wide range of phenotypic differences, even in the 3 patients from the same family. There are no previous reports of CES occurring within 3 patients in the same family. Thus, the clinical and follow-up data presented here contribute to a better delineation of the phenotypes and outcomes of CES patients and will be useful for genetic counseling.<\/jats:p>","DOI":"10.1159\/000341570","type":"journal-article","created":{"date-parts":[[2012,8,10]],"date-time":"2012-08-10T08:13:59Z","timestamp":1344586439000},"page":"5-10","source":"Crossref","is-referenced-by-count":5,"title":["Wide Clinical Variability in Cat Eye Syndrome Patients: Four Non-Related Patients and Three Patients from the Same Family"],"prefix":"10.1159","volume":"138","author":[{"given":"S.I.","family":"Belangero","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.N.X.","family":"Pacanaro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.T.","family":"Bellucco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.M.","family":"Christofolini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.D.","family":"Kulikowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.S.","family":"Guilherme","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Bortolai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.R.N.","family":"Dutra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.B.","family":"Piazzon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.C.","family":"Cernach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.I.","family":"Melaragno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2012,8,10]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jpedsurg.2008.05.012"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1159%2F000074163"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.ejhg.5201378"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1590%2FS0066-782X2009000400010"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1677%2Fjme.0.0230255"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddp042"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002%2Fddrr.3"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1101%2Fgr.154901"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016%2FS0968-0004%2897%2901042-6"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ejmg.2010.08.007"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1159%2F000015035"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1006%2Fgeno.1999.6099"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1590%2FS0104-42302010000400021"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038%2F10640"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/341570","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/341570","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:39:26Z","timestamp":1745433566000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000341570"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":14,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2012,9,1]]},"published-print":{"date-parts":[[2012,9,13]]}},"URL":"https:\/\/doi.org\/10.1159\/000341570","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2012]]}}}