Article

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

2024-07-21

Abstract excerpt

<h4>Purpose</h4> Complex chromosomal rearrangements (CCRs) are rare structural variants involving three or more chromosomal breakpoints. Most de novo reported CCRs pose challenges for diagnosis and management. They often require karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray analysis (CMA) for clinical diagnosis because of the limitations of each method. Here we report an inheri...

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Literature Corpus work: 515a1653-d8f7-55ac-a3fe-a8c1070a21e5
DOI: 10.1101/2024.07.18.24310513

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