{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T10:09:54Z","timestamp":1792145394626,"version":"4.4.0"},"reference-count":53,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2010,4,2]],"date-time":"2010-04-02T00:00:00Z","timestamp":1270166400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2010,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features of the\n                    <jats:italic>MECP2<\/jats:italic>\n                    duplication syndrome, including considerations for the care of patients with this X\u2010linked neurodevelopmental disorder.\n                    <jats:italic>MECP2<\/jats:italic>\n                    duplication syndrome is 100% penetrant in affected males and is associated with infantile hypotonia, severe to profound mental retardation, autism or autistic features, poor speech development, recurrent infections, epilepsy, progressive spasticity, and, in some cases, developmental regression. Most of the reported cases are inherited, however, de novo cases have been documented. While carrier females have been reported to be unaffected, more recent research demonstrates that despite normal intelligence, female carriers display a range of neuropsychiatric phenotypes that pre\u2010date the birth of an affected son. Given what we know of the syndrome to date, we propose that genetic testing is warranted in cases of males with infantile hypotonia and in cases of boys with mental retardation and autistic features with or without recurrent infections, progressive spasticity, epilepsy, or developmental regression. We discuss recommendations for clinical management and surveillance as well as the need for further clinical, genotype\u2013phenotype, and molecular studies to assist the patients and their families who are affected by this syndrome. \u00a9 2010 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.33184","type":"journal-article","created":{"date-parts":[[2010,4,2]],"date-time":"2010-04-02T13:02:38Z","timestamp":1270213358000},"page":"1079-1088","source":"Crossref","is-referenced-by-count":289,"title":["The\n                    <i>MECP2<\/i>\n                    duplication syndrome"],"prefix":"10.1002","volume":"152A","author":[{"given":"Melissa B.","family":"Ramocki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y. Jane","family":"Tavyev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarika U.","family":"Peters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,4,2]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20065"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.075903.107"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0786-3"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(02)00624-0"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp151"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.192"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh282"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature07458"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30490"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000250502.28516.3c"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2009.03.012"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5202009"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80651-0"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-0395"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.45.11.2090"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/513321"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0317167100004200"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature07953"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30688"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cellsig.2007.08.009"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000327"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.038505"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1136"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01102.x"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.12.e41"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.11.037"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-183X.2008.00414.x"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.10016"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036178"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.208"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0401626101"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.12.009"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.023804"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi016"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2004.06.044"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl125"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1086\/512864"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32831e19cd"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature07457"},{"key":"e_1_2_7_42_1","article-title":"Autism 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