Application of Optical Genome Mapping in Complex Chromosomal Structural Rearrangements

Objective: The aim of this study was to assess the applicability of optical genome mapping in chromosomal karyotype analysis. Optical genome mapping validation was conducted on three patients with complex chromosomal structural rearrangements previously identified through chromosomal G-banding karyotype analysis. The primary objective was to elucidate the breakpoints and patterns of chromosomal recombination. Methods: : A comprehensive analysis and validation were conducted on three patients utilizing various techniques, including chromosome G-banding karyotyping, Chromosome Microarray Analysis, and optical genome mapping. Results: : Combined with the results of optical genome mapping and G-banding karyotyping, all three patients exhibited complex chromosomal rearrangements, with the following karyotype descriptions: Patient 1: 46,XX,der(9)ins(9)(q34.3q21.1q21.1)inv(9)(q21.1q21.3); Patient 2: 46,XY,inv(2)(p23q33),t(3;7)(q26.1;q35)inv(7)(q31.2q35); Patient 3: 46,XY,t(1;4;11)(p21.3;q23;q25)inv(11)(p12q14.3)inv(11)(q14.3 q25). Conclusion: Optical genome mapping (OGM) demonstrated superior resolution and sensitivity compared to traditional methods like G-banding karyotyping. OGM proved valuable for validating the results obtained from karyotyping analysis, enhancing diagnostic accuracy.