{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T17:59:51Z","timestamp":1792173591423,"version":"4.4.0"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,2,16]],"date-time":"2017-02-16T00:00:00Z","timestamp":1487203200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100011773","name":"Regional Council of Burgundy","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100011773","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Xtraordinaire"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:p>Duplication of the Xq28 region, involving <jats:italic><jats:styled-content style=\"fixed-case\">MECP2<\/jats:styled-content><\/jats:italic> (<jats:styled-content style=\"fixed-case\">dupMECP2<\/jats:styled-content>), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an extremely skewed X chromosome inactivation (<jats:styled-content style=\"fixed-case\">XCI<\/jats:styled-content>) pattern. We report a series of six novel symptomatic females carrying a <jats:italic>de novo<\/jats:italic> interstitial <jats:styled-content style=\"fixed-case\">dupMECP2<\/jats:styled-content>, and review the 14 symptomatic females reported to date, with the aim to further delineate their phenotype and give clues for genetic counselling. One patient was adopted and among the other 19 patients, seven (37%) had inherited their duplication from their mother, including three mildly (<jats:styled-content style=\"fixed-case\">XCI<\/jats:styled-content>: 70\/30, 63\/37, 100\/0 in blood and random in saliva), one moderately (<jats:styled-content style=\"fixed-case\">XCI<\/jats:styled-content>: random) and three severely (<jats:styled-content style=\"fixed-case\">XCI<\/jats:styled-content>: uninformative and 88\/12) affected patients. After combining our data with data from the literature, we could not show a correlation between <jats:styled-content style=\"fixed-case\">XCI<\/jats:styled-content> in the blood or duplication size and the severity of the phenotype, or explain the presence of a phenotype in these females. These findings confirm that an abnormal phenotype, even severe, can be a rare event in females born to asymptomatic carrier mothers, making genetic counselling difficult in couples at risk in terms of prognosis, in particular in prenatal cases.<\/jats:p>","DOI":"10.1111\/cge.12898","type":"journal-article","created":{"date-parts":[[2016,10,20]],"date-time":"2016-10-20T02:52:42Z","timestamp":1476931962000},"page":"576-588","source":"Crossref","is-referenced-by-count":25,"title":["Xq28 duplication including <i><scp>MECP2<\/scp><\/i> in six unreported affected females: what can we learn for diagnosis and genetic counselling?"],"prefix":"10.1111","volume":"91","author":[{"given":"S.","family":"El Chehadeh","sequence":"first","affiliation":[{"name":"FHU TRANSLAD, Centre de R\u00e9f\u00e9rence Maladies Rares \u00abAnomalies du D\u00e9veloppement et Syndromes Malformatifs\u00bb de l'Est Centre de G\u00e9n\u00e9tique, CHU de Dijon  Dijon France"},{"name":"Service de G\u00e9n\u00e9tique 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