{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:27:54Z","timestamp":1745468874823,"version":"3.40.4"},"reference-count":14,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2019]]},"abstract":"<jats:p>We report the case of a child from Central Brazil with global developmental delay (GDD), syndromic features, and absence of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa, with a rearrangement at Xq28 harboring the &lt;i&gt;DKC1&lt;\/i&gt; gene. GTC-banding revealed a male karyotype (46,XY) with no visible numerical or structural alterations. Chromosomal microarray analysis (CMA) showed a 0.36-Mb gain at Xq28 of maternal origin, encompassing 22 genes, including &lt;i&gt;DKC1&lt;\/i&gt;. Rearrangements and mutations involving this gene have been associated with dyskeratosis congenita, X-linked (OMIM 305000) and Hoyeraal-Hreidarsson syndrome. CMA was a powerful and efficient approach to identify a gain at Xq28 harboring the &lt;i&gt;DKC1&lt;\/i&gt; gene in our patient with GDD syndromic features and no cutaneous alterations, suggesting that this variant is associated with the Hoyeraal-Hreidarsson syndrome.<\/jats:p>","DOI":"10.1159\/000500005","type":"journal-article","created":{"date-parts":[[2019,4,26]],"date-time":"2019-04-26T21:00:40Z","timestamp":1556312440000},"page":"214-218","source":"Crossref","is-referenced-by-count":0,"title":["Copy Number Gain at Xq28 in a Child with Global Developmental Delay Associated with a Variant Form of Hoyeraal-Hreidarsson Syndrome"],"prefix":"10.1159","volume":"10","author":[{"given":"L\u00e9lia L.","family":"Gon\u00e7alves Ramos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Plaza Pinto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajib","family":"Deb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristiano L.","family":"Ribeiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damiana","family":"M\u00edrian da Cruz e Cunha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lysa","family":"Bernardes Minasi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio M.T.","family":"Cordeiro Silva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aparecido D.","family":"da Cruz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2019,4,27]]},"reference":[{"doi-asserted-by":"publisher","key":"ref1","DOI":"10.1007\/s004310050294"},{"doi-asserted-by":"publisher","key":"ref2","DOI":"10.1002\/humu.22397"},{"doi-asserted-by":"publisher","key":"ref3","DOI":"10.1111\/pde.12693"},{"doi-asserted-by":"publisher","key":"ref4","DOI":"10.1016\/j.fertnstert.2016.11.002"},{"doi-asserted-by":"publisher","key":"ref5","DOI":"10.1055\/s-0036-1578799"},{"doi-asserted-by":"publisher","key":"ref6","DOI":"10.1111\/bjh.13442"},{"doi-asserted-by":"publisher","key":"ref7","DOI":"10.1073\/pnas.0803559105"},{"doi-asserted-by":"publisher","key":"ref8","DOI":"10.1038\/mp.2013.92"},{"doi-asserted-by":"publisher","key":"ref9","DOI":"10.1111\/j.1651-2227.1970.tb08986.x"},{"doi-asserted-by":"publisher","key":"ref10","DOI":"10.1111\/j.1651-2227.1988.tb10751.x"},{"doi-asserted-by":"publisher","key":"ref11","DOI":"10.1073\/pnas.0402560101"},{"doi-asserted-by":"publisher","key":"ref12","DOI":"10.1089\/omi.2017.0009"},{"doi-asserted-by":"publisher","key":"ref13","DOI":"10.1186\/1755-8166-5-9"},{"doi-asserted-by":"publisher","key":"ref14","DOI":"10.1002\/ajh.24545"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/500005","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/500005","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:33:36Z","timestamp":1745426016000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000500005"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"references-count":14,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2019,7,23]]},"published-print":{"date-parts":[[2019,7,25]]}},"URL":"https:\/\/doi.org\/10.1159\/000500005","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2019]]}}}