{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:57:11Z","timestamp":1790776631485,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T00:00:00Z","timestamp":1790726400000},"content-version":"vor","delay-in-days":272,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100017520","name":"Chengdu Medical College","doi-asserted-by":"publisher","award":["24LHFYSZ1-20"],"award-info":[{"award-number":["24LHFYSZ1-20"]}],"id":[{"id":"10.13039\/100017520","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Duchenne\/Becker muscular dystrophy (DMD\/BMD) is caused by variants in the X\u2010linked\n                    <jats:italic>DMD<\/jats:italic>\n                    gene\u2014most commonly deletions, duplications, or point mutations, and only rarely by complex chromosomal rearrangements (CCRs). In this study, structural variant sequencing (SVseq) was applied to a 14\u2010year\u2010old male patient with DMD. Although the patient exhibited typical symptoms, conventional tests\u2014including karyotype analysis, gene panel, whole\u2010exome sequencing (WES), and multiplex ligation\u2013dependent probe amplification (MLPA)\u2014were all negative. SVseq identified a novel complex rearrangement on the X chromosome, comprising a 974,456\u2009bp inversion spanning the 5\u2009\n                    <jats:sup>\u2032<\/jats:sup>\n                    UTR and Exons 1\u20132 of the\n                    <jats:italic>DMD<\/jats:italic>\n                    gene, flanked by two microdeletions of 7285 and 6468\u2009bp (NC_000023.11:g.[32865334_32872619del;32872619_33847075inv33847075_33853543del]). This rearrangement disrupts the\n                    <jats:italic>DMD<\/jats:italic>\n                    coding sequence and is classified as a pathogenic variant. Short tandem repeat (STR) analysis confirmed the familial relationship, whereas PCR and Sanger sequencing precisely mapped the breakpoints, establishing that the mutation arose de novo in his mother and was maternally inherited. Reproductive interventions\u2014including preimplantation genetic testing for monogenic disorders (PGT\u2010M) and second\u2010trimester prenatal diagnosis\u2014enabled the successful birth of a healthy male child. SVseq demonstrated clear advantages over standard methods for detecting CCRs, highlighting its value in genetically elusive cases. We recommend SVseq as a complementary diagnostic tool for unresolved DMD cases where conventional testing does not explain the findings. This approach can enhance diagnostic yield and support informed family planning.\n                  <\/jats:p>","DOI":"10.1155\/humu\/8333541","type":"journal-article","created":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:12:03Z","timestamp":1790773923000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9391-890X","authenticated-orcid":false,"given":"Shengfang","family":"Qin","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women\u2032s and Children\u2032s Hospital\/The Affiliated Women\u2032s and Children\u2032s Hospital of Chengdu Medical College  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1277-9165","authenticated-orcid":false,"given":"Xueyan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women\u2032s and Children\u2032s Hospital\/The Affiliated Women\u2032s and Children\u2032s Hospital of Chengdu Medical College  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4961-6618","authenticated-orcid":false,"given":"Jin","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women\u2032s and Children\u2032s Hospital\/The Affiliated Women\u2032s and Children\u2032s Hospital of Chengdu Medical College  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7046-2233","authenticated-orcid":false,"given":"Xiangyou","family":"Leng","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women\u2032s and Children\u2032s Hospital\/The Affiliated Women\u2032s and Children\u2032s Hospital of Chengdu Medical College  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2095-8246","authenticated-orcid":false,"given":"Zhuo","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women\u2032s and Children\u2032s Hospital\/The Affiliated Women\u2032s and Children\u2032s Hospital of Chengdu Medical College  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ximin","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women\u2032s and Children\u2032s Hospital\/The Affiliated Women\u2032s and Children\u2032s Hospital of Chengdu Medical College  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9134-3559","authenticated-orcid":false,"given":"Yan","family":"Yin","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women\u2032s and Children\u2032s Hospital\/The Affiliated Women\u2032s and Children\u2032s Hospital of Chengdu Medical College  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,30]]},"reference":[{"key":"e_1_2_9_1_2","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.7"},{"key":"e_1_2_9_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23528"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-024-00653-1"},{"key":"e_1_2_9_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2024.04.003"},{"key":"e_1_2_9_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2028"},{"key":"e_1_2_9_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2088"},{"key":"e_1_2_9_7_2","doi-asserted-by":"publisher","DOI":"10.7754\/Clin.Lab.2021.210750"},{"key":"e_1_2_9_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1759"},{"key":"e_1_2_9_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2017.12.037"},{"key":"e_1_2_9_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30130"},{"key":"e_1_2_9_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.06.001"},{"key":"e_1_2_9_12_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes12030398"},{"key":"e_1_2_9_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-004-0204-1"},{"key":"e_1_2_9_14_2","doi-asserted-by":"publisher","DOI":"10.1177\/00099228241272029"},{"key":"e_1_2_9_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-0716-2950-5_9"},{"key":"e_1_2_9_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btr563"},{"key":"e_1_2_9_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22541"},{"key":"e_1_2_9_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-022-02510-4"},{"key":"e_1_2_9_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23953"},{"key":"e_1_2_9_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2020.11.015"},{"key":"e_1_2_9_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51612"},{"key":"e_1_2_9_22_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms241914716"},{"key":"e_1_2_9_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-022-01190-y"},{"key":"e_1_2_9_24_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms241713567"},{"key":"e_1_2_9_25_2","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.52245"},{"key":"e_1_2_9_26_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.878806"},{"key":"e_1_2_9_27_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-024-00676-8"},{"key":"e_1_2_9_28_2","doi-asserted-by":"publisher","DOI":"10.36185\/2532-1900-394"},{"key":"e_1_2_9_29_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-025-01987-9"},{"key":"e_1_2_9_30_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0686-8"},{"key":"e_1_2_9_31_2","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2022.992546"},{"key":"e_1_2_9_32_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02717892"}],"container-title":["Human 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