Genetic and functional characterization of inherited complex chromosomal rearrangements in a family with multisystem anomalies

• Published in: Genetics in Medicine Open Vol. 3; p. 103423
• Main Authors: Fang, He, Eacker, Stephen M., Wu, Yu, Neufeld-Kaiser, Whitney, Laurino, Mercy, Keel, Siobán, Horwitz, Marshall S., Liu, Yajuan J.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.01.2025; Elsevier
• Subjects: Complex chromosomal rearrangements; Genomic proximity mapping (GPM); Hi-C; Optical genome mapping (OGM); Genomic proximity mapping (GPM); Optical genome mapping (OGM); Hi-C; Complex chromosomal rearrangements
• ISSN: 2949-7744; 2949-7744
• DOI: 10.1016/j.gimo.2025.103423

Complex chromosomal rearrangements (CCRs) are rare structural variants involving 3 or more chromosomal breakpoints. Most de novo-reported CCRs pose challenges for diagnosis and management. They often require karyotyping, fluorescence in situ hybridization, and chromosomal microarray analysis (CMA) f...