{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T06:46:44Z","timestamp":1792133204649,"version":"4.4.0"},"reference-count":27,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T00:00:00Z","timestamp":1792022400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T00:00:00Z","timestamp":1792022400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"abstract":"ABSTRACT<\/jats:title>\n \n Objective<\/jats:title>\n \n This study aimed to conduct a molecular genetic analysis and prenatal diagnosis for a family with\n MECP2<\/jats:italic>\n duplication syndrome (MDS), with the goal of improving diagnostic accuracy and enabling informed reproductive decisions to reduce the incidence of this condition.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n The study involved a proband (a 15\u2010week\u2010old fetus), his symptomatic older brother, and their parents. Genomic DNA from chorionic villus and peripheral blood samples was analyzed using high\u2010throughput sequencing to detect chromosomal copy number variations (CNVs). To confirm the findings, multiplex ligation\u2010dependent probe amplification (MLPA) was specifically employed.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n High\u2010throughput sequencing identified a 0.35\u2009Mb duplication at Xq28 in the fetus and his mother, and a 0.4\u2009Mb duplication in the brother. The duplicated region contained the critical\n MECP2<\/jats:italic>\n gene. MLPA analysis confirmed the\n MECP2<\/jats:italic>\n gene duplication in the fetus, leading to a definitive diagnosis of MDS. The mother was identified as an asymptomatic carrier.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n Both the proband and his brother were diagnosed with MDS, having inherited the duplication from their asymptomatic mother. The combined use of high\u2010throughput sequencing and MLPA proved to be an effective strategy for accurate pedigree analysis and prenatal diagnosis of MDS, providing a crucial basis for genetic counseling.<\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/jcla.70373","type":"journal-article","created":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T06:08:31Z","timestamp":1792130911000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Molecular Genetic Analysis and Prenatal Diagnosis of a Family With\n \n MECP2<\/i>\n <\/scp>\n Duplication Syndrome"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-0223-7354","authenticated-orcid":false,"given":"FengQiu","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Laboratory Center Affiliated Hospital of Youjiang Medical University for Nationalities Baise Guangxi Zhuang Autonomous Region China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"DingGuo","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Laboratory Center Affiliated Hospital of Youjiang Medical University for Nationalities Baise Guangxi Zhuang Autonomous Region China"},{"name":"Graduate School of Youjiang Medical University for Nationalities Baise Guangxi Zhuang Autonomous Region China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ZhengLin","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Laboratory Center Affiliated Hospital of Youjiang Medical University for Nationalities Baise Guangxi Zhuang Autonomous Region China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Center Affiliated Hospital of Youjiang Medical University for Nationalities Baise Guangxi Zhuang Autonomous Region China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ChunFang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Center Affiliated Hospital of Youjiang Medical University for Nationalities Baise Guangxi Zhuang Autonomous Region China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JuHua","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Center Affiliated Hospital of Youjiang Medical University for Nationalities Baise Guangxi Zhuang Autonomous Region China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"XueJuan","family":"Nong","sequence":"additional","affiliation":[{"name":"Department of Laboratory Center Affiliated Hospital of Youjiang Medical University for Nationalities Baise Guangxi Zhuang Autonomous Region China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ZhengYi","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Center Affiliated Hospital of Youjiang Medical University for Nationalities Baise Guangxi Zhuang Autonomous Region China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"FuBo","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Laboratory Center Affiliated Hospital of Youjiang Medical University for Nationalities Baise Guangxi Zhuang Autonomous Region China"},{"name":"Graduate School of Youjiang Medical University for Nationalities Baise Guangxi Zhuang Autonomous Region China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-8854-8229","authenticated-orcid":false,"given":"GuiDan","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Laboratory Center Affiliated Hospital of Youjiang Medical University for Nationalities Baise Guangxi Zhuang Autonomous Region China"},{"name":"Key Laboratory of Research on Clinical Molecular Diagnosis for High Incidence Diseases in Western Guangxi of Guangxi Higher Education Institutions, Education Department of Guangxi Zhuang Autonomous Region Baise Guangxi Zhuang Autonomous Region China"},{"name":"Guangxi Engineering Research Center for Precise Genetic Testing of Long\u2010dwelling Nationalities Baise Guangxi Zhuang Autonomous Region China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,15]]},"reference":[{"issue":"1","key":"e_1_2_12_2_1","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/s12920-023-01465-3","article-title":"Duplication Within Two Regions Distal to MECP2: Clinical Similarity With MECP2 Duplication Syndrome","volume":"16","author":"Akahoshi K.","year":"2023","journal-title":"BMC Medical Genomics"},{"issue":"1","key":"e_1_2_12_3_1","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1186\/s13023-022-02278-w","article-title":"A Brief History of MECP2 Duplication Syndrome: 20\u2010Years of Clinical Understanding","volume":"17","author":"Ta D.","year":"2022","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"11","key":"e_1_2_12_4_1","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1111\/jpc.14399","article-title":"The Incidence, Prevalence and Clinical Features of MECP2 Duplication Syndrome in Australian Children","volume":"55","author":"Giudice\u2010Nairn P.","year":"2019","journal-title":"Journal of Paediatrics and Child Health"},{"issue":"6","key":"e_1_2_12_5_1","doi-asserted-by":"crossref","first-page":"1292","DOI":"10.1002\/ajmg.a.35321","article-title":"The Incidence of Hypoplasia of the Corpus Callosum in Patients With Dup (X) (q28) involvingMECP2 Is Associated With the Location of Distal Breakpoints","volume":"158","author":"Honda S.","year":"2012","journal-title":"American Journal of Medical Genetics \u2010 Seminars in Medical Genetics, Part A"},{"issue":"4","key":"e_1_2_12_6_1","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1111\/cge.12898","article-title":"Xq28 Duplication Including MECP2 in Six Unreported Affected Females: What Can We Learn for Diagnosis and Genetic Counselling?","volume":"91","author":"El Chehadeh S.","year":"2017","journal-title":"Clinical Genetics"},{"issue":"3","key":"e_1_2_12_7_1","first-page":"1","article-title":"MECP2 Duplication Syndrome Initially Misdiagnosed as Cerebral Palsy: A Case Report","volume":"51","author":"Kim T.","year":"2023","journal-title":"Journal of International Medical Research"},{"issue":"1","key":"e_1_2_12_8_1","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1186\/s12920-024-01831-9","article-title":"Genetic Analysis of a Pedigree With MECP2 Duplication Syndrome in China","volume":"17","author":"Zeng L.","year":"2024","journal-title":"BMC Medical Genomics"},{"issue":"4","key":"e_1_2_12_9_1","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1002\/ajmg.a.61510","article-title":"MECP2 Duplication Syndrome in a Patient From Cameroon","volume":"182","author":"Gongang C. T.","year":"2020","journal-title":"American Journal of Medical Genetics Part A"},{"issue":"1","key":"e_1_2_12_10_1","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/s12881-017-0394-7","article-title":"A Sibship With Duplication of Xq28 Inherited From the Mother; Genomic Characterization and Clinical Outcomes","volume":"18","author":"Yon D. K.","year":"2017","journal-title":"BMC Medical Genetics"},{"issue":"12","key":"e_1_2_12_11_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2021.104367","article-title":"Molecular and Clinical Insights Into Complex Genomic Rearrangements Related to MECP2 Duplication Syndrome","volume":"64","author":"Abdala B. B.","year":"2021","journal-title":"European Journal of Medical Genetics"},{"issue":"1","key":"e_1_2_12_12_1","first-page":"1","article-title":"Cytogenomic Delineation and Clinical Characterization of Three Cases of MECP2 Duplication Syndrome","volume":"3","author":"Chow C.","year":"2015","journal-title":"Journal of Clinical Medicine & Genomic Sciences"},{"issue":"1","key":"e_1_2_12_13_1","first-page":"1","article-title":"The Presence of Two Rare Genomic Syndromes, 1q21 Deletion and Xq28 Duplication, Segregating Independently in a Family With Intellectual Disability","volume":"9","author":"Ha K.","year":"2016","journal-title":"Molecular Cytogenetics"},{"issue":"4","key":"e_1_2_12_14_1","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1111\/cge.13718","article-title":"Molecular Characterization of Spanish Patients With MECP2 Duplication Syndrome","volume":"97","author":"Pascual\u2010Alonso A.","year":"2020","journal-title":"Clinical Genetics"},{"issue":"1","key":"e_1_2_12_15_1","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1111\/jnc.15331","article-title":"MECP2 and the Biology of MECP2 Duplication Syndrome","volume":"159","author":"D'Mello S. R.","year":"2021","journal-title":"Journal of Neurochemistry"},{"issue":"3","key":"e_1_2_12_16_1","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1086\/444549","article-title":"Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males","volume":"77","author":"Van Esch H.","year":"2005","journal-title":"American Journal of Human Genetics"},{"issue":"9","key":"e_1_2_12_17_1","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/j.molmed.2014.03.004","article-title":"MeCP2: The Long Trip From a Chromatin Protein to Neurological Disorders","volume":"20","author":"Ausio J.","year":"2014","journal-title":"Trends in Molecular Medicine"},{"issue":"1","key":"e_1_2_12_18_1","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1038\/npp.2012.116","article-title":"The Impact of MeCP2 Loss\u2010 or Gain\u2010of\u2010Function on Synaptic Plasticity","volume":"38","author":"Na E. S.","year":"2013","journal-title":"Neuropsychopharmacology"},{"issue":"9","key":"e_1_2_12_19_1","doi-asserted-by":"crossref","first-page":"3109","DOI":"10.1523\/JNEUROSCI.6000-11.2012","article-title":"A Mouse Model for MeCP2 Duplication Syndrome: MeCP2 Overexpression Impairs Learning and Memory and Synaptic Transmission","volume":"32","author":"Na E. S.","year":"2012","journal-title":"Journal of Neuroscience"},{"issue":"3","key":"e_1_2_12_20_1","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0150101","article-title":"MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison With Rett Syndrome","volume":"11","author":"Signorini C.","year":"2016","journal-title":"PLoS One"},{"issue":"6","key":"e_1_2_12_21_1","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.ejmg.2016.05.004","article-title":"Chromosome Xq28 Duplication Encompassing MECP2: Clinical and Molecular Analysis of 16 New Patients From 10 Families in China","volume":"59","author":"Yi Z.","year":"2016","journal-title":"European Journal of Medical Genetics"},{"issue":"1","key":"e_1_2_12_22_1","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0085096","article-title":"PSCC: Sensitive and Reliable Population\u2010Scale Copy Number Variation Detection Method Based on Low Coverage Sequencing","volume":"9","author":"Li X.","year":"2014","journal-title":"PLoS One"},{"issue":"9","key":"e_1_2_12_23_1","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1038\/gim.2015.199","article-title":"Low\u2010Pass Whole\u2010Genome Sequencing in Clinical Cytogenetics: A Validated Approach","volume":"18","author":"Dong Z.","year":"2016","journal-title":"Genetics in Medicine"},{"key":"e_1_2_12_24_1","doi-asserted-by":"crossref","DOI":"10.1186\/s12864-021-07686-z","article-title":"Evaluation of Tools for Identifying Large Copy Number Variations From Ultra\u2010Low\u2010Coverage Whole\u2010Genome Sequencing Data","volume":"22","author":"Smolander J.","year":"2021","journal-title":"BMC Genomics"},{"issue":"8","key":"e_1_2_12_25_1","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1007\/s00431-010-1144-4","article-title":"Progressive Cerebellar Degenerative Changes in the Severe Mental Retardation Syndrome Caused by Duplication of MECP2 and Adjacent Loci on Xq28","volume":"169","author":"Reardon W.","year":"2010","journal-title":"European Journal of Pediatrics"},{"issue":"11","key":"e_1_2_12_26_1","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1007\/s00439-014-1469-6","article-title":"De Novo MECP2 Duplications in Two Females With Intellectual Disability and Unfavorable Complete Skewed X\u2010Inactivation","volume":"133","author":"Fieremans N.","year":"2014","journal-title":"Human Genetics"},{"issue":"8","key":"e_1_2_12_27_1","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1016\/S1474-4422(20)30217-9","article-title":"Advances in Understanding of Rett Syndrome and MECP2 Duplication Syndrome: Prospects for Future Therapies","volume":"19","author":"Sandweiss A. J.","year":"2020","journal-title":"Lancet Neurology"},{"issue":"5","key":"e_1_2_12_28_1","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1097\/INF.0000000000001799","article-title":"Antibiotic Prophylaxis, Immunoglobulin Substitution and Supportive Measures Prevent Infections in MECP2 Duplication Syndrome","volume":"37","author":"Bauer M.","year":"2018","journal-title":"Pediatric Infectious Disease Journal"}],"container-title":["Journal of Clinical Laboratory Analysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.70373","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcla.70373","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.70373","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T06:08:35Z","timestamp":1792130915000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcla.70373"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,15]]},"references-count":27,"alternative-id":["10.1002\/jcla.70373"],"URL":"https:\/\/doi.org\/10.1002\/jcla.70373","archive":["Portico"],"relation":{},"ISSN":["0887-8013","1098-2825"],"issn-type":[{"value":"0887-8013","type":"print"},{"value":"1098-2825","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,15]]},"assertion":[{"value":"2025-12-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-21","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-10-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70373"}}