{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T13:05:11Z","timestamp":1790168711205,"version":"4.1.0"},"reference-count":50,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T00:00:00Z","timestamp":1790035200000},"content-version":"vor","delay-in-days":21,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"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":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Our study investigates the impact of junction breakpoints of complex chromosomal rearrangements (CCRs) on developmental delay and intermittent epilepsy in children, aiming to elucidate the underlying genetic mechanisms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We reported a patient with developmental delay in family 1, and we reported a patient with intermittent epileptic seizures in family 2. Karyotype analysis was used to detect chromosomal abnormalities. Whole exome sequencing (WES) and\/or whole genome sequencing (WGS) can further assist in identifying the genetic etiology.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Our findings revealed a central inversion rearrangement on chromosome 3 affecting the\n                      <jats:italic>Roundabout Guidance Receptor 1 (ROBO1), DnaJ Heat Shock Protein Family Member C13 (DNAJC13)<\/jats:italic>\n                      , and\n                      <jats:italic>Acyl\u2010CoA Dehydrogenase Family Member 11 (ACAD11)<\/jats:italic>\n                      genes in patient 1, suggesting its potential pathogenic role in developmental delays. In another patient, we identified a complex rearrangement involving chromosome 1, coupled with a heterozygous mutation in\n                      <jats:italic>KCNA2<\/jats:italic>\n                      NM_004974.4:c.347A&gt;C (p.Tyr116Ser), indicating a strong association with intermittent seizures.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Combining chromosome karyotype analysis with WES and\/or WGS can accurately locate chromosomal breakpoints and provide more accurate genetic information. It is an important approach for integrated diagnosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70305","type":"journal-article","created":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T04:47:15Z","timestamp":1790138835000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and Genetic Analysis of Pediatric Neurodevelopmental Disorders With Complex Chromosomal Rearrangements in Two Cases"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5982-3429","authenticated-orcid":false,"given":"Jiaci","family":"Li","sequence":"first","affiliation":[{"name":"Children's Hospital, Tianjin University\/Tianjin Children's Hospital (National Children's Regional Medical Center)  Tianjin China"},{"name":"Tianjin Pediatric Research Institute  Tianjin China"},{"name":"Tianjin Key Laboratory of Birth Defects for Prevention and Treatment  Tianjin 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