{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T21:28:36Z","timestamp":1791494916108,"version":"4.3.4"},"reference-count":35,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"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":[[2011]]},"abstract":"<jats:p>Loss-of-function mutations of the &lt;i&gt;MECP2&lt;\/i&gt; gene are the cause of most cases of Rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression, hand stereotypies, and microcephaly. On the other hand, gain of dosage of this gene causes the &lt;i&gt;MECP2&lt;\/i&gt; duplication syndrome in males characterized by severe mental retardation, absence of speech development, infantile hypotonia, progressive spasticity, recurrent infections, and facial dysmorphism. Female carriers of a heterozygous duplication show a skewed X-inactivation pattern which is the most probable cause of the lack of clinical symptoms. In this paper, we describe a girl with a complex de novo copy number gain at Xq28 and non-skewed X-inactivation pattern that causes mental retardation and motor and language delay. This rearrangement implies triplication of the &lt;i&gt;MECP2&lt;\/i&gt; and &lt;i&gt;IRAK1&lt;\/i&gt; genes, but it does not span other proximal genes located in the common minimal region of patients affected by the &lt;i&gt;MECP2 &lt;\/i&gt;duplication syndrome. We conclude that the triplication leads to a severe phenotype due to random X-inactivation, while the preferential X chromosome inactivation in healthy carriers may be caused by a negative selection effect of the duplication on some proximal genes like &lt;i&gt;ARD1A&lt;\/i&gt; or &lt;i&gt;HCFC1&lt;\/i&gt;.<\/jats:p>","DOI":"10.1159\/000330917","type":"journal-article","created":{"date-parts":[[2011,10,24]],"date-time":"2011-10-24T07:19:19Z","timestamp":1319440759000},"page":"93-101","source":"Crossref","is-referenced-by-count":25,"title":["De novo Interstitial Triplication of &lt;i&gt;MECP2&lt;\/i&gt; in a Girl with Neurodevelopmental Disorder and Random X Chromosome Inactivation"],"prefix":"10.1159","volume":"135","author":[{"given":"S.","family":"Mayo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Monfort","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Rosell\u00f3","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Orellana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Oltra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Armstrong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Catal\u00e0","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Mart\u00ednez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2011,9,16]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.2009.01363.x"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1101%2Fgr.075903.107"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038%2Fejhg.2008.192"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.9482"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1097%2F01.gim.0000250502.28516.3c"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.pediatrneurol.2009.03.012"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1542%2Fpeds.2006-0395"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.20564"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038%2Fejhg.2010.226"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.410140412"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016%2F0092-8674%2893%2990419-Q"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.2008.01102.x"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.mcn.2004.07.006"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00439-004-1175-x"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1097%2F00019605-200104000-00012"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1038%2Fejhg.2008.208"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.2010.01371.x"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1089%2Fgte.2006.10.174"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1327"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.lab.2006.01.006"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016%2FS1090-3798%2802%2900134-4"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1007%2FBF02265299"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.30088"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00431-010-1144-4"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1110%2Fps.062264006"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.ejhg.5201384"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1186%2F1750-1172-4-4"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F11.2.115"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.b.30683"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1016%2FS0168-9525%2802%2902592-1"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.M301218200"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ajhg.2009.10.019"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1086%2F444549"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2007.049452"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1016%2F0888-7543%2895%2980046-O"}],"container-title":["Cytogenetic 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