{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T10:48:07Z","timestamp":1761821287967,"version":"3.37.3"},"reference-count":17,"publisher":"Wiley","license":[{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2011]]},"abstract":"<jats:p>This report is of a patient with pure trisomy of 15q24-qter who presents with the rare Ebstein anomaly and a previously unreported skeletal anomaly. Chromosome microarray analysis allowed high-resolution identification of the extent of the trisomy and provided a means of achieving higher-resolution breakpoint data. The phenotypic expression of unbalanced chromosomal regions is a complex phenomenon, and fine mapping of the involved region, as described here, is only a first step on the path to its full understanding. Overexpression of the<jats:italic>LINGO-1<\/jats:italic>and<jats:italic>CSPG4<\/jats:italic>genes has been implicated in developmental delay seen in other patients with trisomy of 15q24-qter, but our patient is currently too young to ascertain developmental progress. The genetic underpinning of Ebstein anomaly and the skeletal anomaly reported here is unclear based on our high-resolution dosage mapping.<\/jats:p>","DOI":"10.1155\/2011\/898706","type":"journal-article","created":{"date-parts":[[2011,11,13]],"date-time":"2011-11-13T16:00:27Z","timestamp":1321200027000},"page":"1-5","source":"Crossref","is-referenced-by-count":4,"title":["Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly"],"prefix":"10.1155","volume":"2011","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7099-2629","authenticated-orcid":true,"given":"Rachel","family":"O'Connor","sequence":"first","affiliation":[{"name":"Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amel","family":"Al-Murrani","sequence":"additional","affiliation":[{"name":"Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salim","family":"Aftimos","sequence":"additional","affiliation":[{"name":"Northern Regional Genetic Service, Auckland City Hospital, Private Bag 92024, Auckland 1142, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip","family":"Asquith","sequence":"additional","affiliation":[{"name":"Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9654-9695","authenticated-orcid":true,"given":"Roberto","family":"Mazzaschi","sequence":"additional","affiliation":[{"name":"Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. 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