{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T13:30:24Z","timestamp":1756992624686,"version":"3.40.4"},"reference-count":0,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[1964,1,1]],"date-time":"1964-01-01T00:00:00Z","timestamp":-189388800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[1964,1,1]],"date-time":"1964-01-01T00:00:00Z","timestamp":-189388800000},"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":[[1964]]},"abstract":"<jats:p>A 4 10\/12 year old girl with mental defect and multiple minor congenital anomalies was found to have a deletion of the short arm of chromosome 18. Limited investigation for loss of an allele did not reveal such a loss. Comparison of the phenotype of this patient with that of other patients with apparently identical cytogenetic abnormalities suggests a wide spectrum of variability in phenotype. Evidence suggests that the abnormal chromosome might not be a true telocentric chromosome.<\/jats:p>","DOI":"10.1159\/000129811","type":"journal-article","created":{"date-parts":[[2008,4,30]],"date-time":"2008-04-30T09:35:09Z","timestamp":1209548109000},"page":"201-206","source":"Crossref","is-referenced-by-count":16,"title":["Deletion of the Short Arm of Chromosome 18"],"prefix":"10.1159","volume":"3","author":[{"given":"R.L.","family":"Summitt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,4,29]]},"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/129811","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/129811","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T01:32:51Z","timestamp":1745458371000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000129811"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1964]]},"references-count":0,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2004,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000129811","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[1964]]}}}