{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T10:26:09Z","timestamp":1793701569341,"version":"4.5.1"},"reference-count":0,"publisher":"Sultan Qaboos University","issue":"2","license":[{"start":{"date-parts":[[2023,5,31]],"date-time":"2023-05-31T00:00:00Z","timestamp":1685491200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sultan Qaboos University Medical Journal"],"abstract":"<jats:p>Silver-Russell Syndrome (SRS) is a disorder that is primarily characterised by intrauterine growth restriction which may occur asymmetrically or in whole, leading to a fetus being small relative to its gestational age. We present a female infant (proband) born in 2018 at a tertiary hospital in Muscat, Oman, with severe congenital anomalies. The proband carried a &gt;25Mb duplication of the chromosomal 11p15-11pter locus of chromosome 13; creating a derivative chromosome 13 (der[13]) and was reported as 46,XX,der(13)add(11p15-11pter). A methylation-sensitive assay confirmed a diagnosis of SRS. Although the prognosis for SRS patients is generally good, the proband presented with a clinically severe phenotype culminating in death at the age of nine months. To the best of the authors\u2019 knowledge, this is the first report of a derivative chromosome 13 with a duplicated 11p15 locus in a patient with SRS.<\/jats:p>","DOI":"10.18295\/squmj.4.2022.033","type":"journal-article","created":{"date-parts":[[2022,4,25]],"date-time":"2022-04-25T04:34:36Z","timestamp":1650861276000},"page":"264-268","source":"Crossref","is-referenced-by-count":1,"title":["First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome"],"prefix":"10.18295","volume":"23","author":[{"given":"Nishath","family":"Hamza","sequence":"first","affiliation":[{"name":"National Genetic Centre, Royal Hospital, Ministry of Health, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Musallam","family":"Al-Araimi","sequence":"additional","affiliation":[{"name":"National Genetic Centre, Royal Hospital, Ministry of Health, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamla","family":"Al Salmani","sequence":"additional","affiliation":[{"name":"National Genetic Centre, Royal Hospital, Ministry of Health, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salwa","family":"Al Obeidani","sequence":"additional","affiliation":[{"name":"National Genetic Centre, Royal Hospital, Ministry of Health, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"7681","published-online":{"date-parts":[[2023,5,31]]},"container-title":["Sultan Qaboos University Medical Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.squ.edu.om\/index.php\/squmj\/article\/download\/5035\/3457","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.squ.edu.om\/index.php\/squmj\/article\/download\/5035\/3457","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T09:35:21Z","timestamp":1793698521000},"score":1,"resource":{"primary":{"URL":"https:\/\/mjournal.squ.edu.om\/home\/vol23\/iss2\/19"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,31]]},"references-count":0,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2023,5,31]]}},"URL":"https:\/\/doi.org\/10.18295\/squmj.4.2022.033","relation":{},"ISSN":["2075-0528"],"issn-type":[{"value":"2075-0528","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,31]]}}}