Optical Genome Mapping as a Tool to Unveil New Molecular Findings in Hematological Patients with Complex Chromosomal Rearrangements
Abstract
:1. Introduction
2. Materials and Methods
2.1. Patients
2.1.1. Case 1
2.1.2. Case 2
2.2. Chromosome Banding Analysis (CBA)
2.3. Fluorescence In Situ Hybridization (FISH) Analysis
2.4. Multicolor FISH (M-FISH) Studies
2.5. Optical Genome Mapping (OGM) Analysis
2.6. Expression Analysis by Reverse Transcription-PCR (RT-PCR)
2.7. Immunohistochemistry (IHC) Experiment on Bone Marrow Biopsy: Myc Protein Expression
3. Results
3.1. Case 1
3.1.1. Standard Cytogenetic Analyses
3.1.2. OGM Analysis
3.2. Case 2
3.2.1. Standard Cytogenetic Analyses
3.2.2. OGM Analysis
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Coccaro, N.; Zagaria, A.; Anelli, L.; Tarantini, F.; Tota, G.; Conserva, M.R.; Cumbo, C.; Parciante, E.; Redavid, I.; Ingravallo, G.; et al. Optical Genome Mapping as a Tool to Unveil New Molecular Findings in Hematological Patients with Complex Chromosomal Rearrangements. Genes 2023, 14, 2180. https://doi.org/10.3390/genes14122180
Coccaro N, Zagaria A, Anelli L, Tarantini F, Tota G, Conserva MR, Cumbo C, Parciante E, Redavid I, Ingravallo G, et al. Optical Genome Mapping as a Tool to Unveil New Molecular Findings in Hematological Patients with Complex Chromosomal Rearrangements. Genes. 2023; 14(12):2180. https://doi.org/10.3390/genes14122180
Chicago/Turabian StyleCoccaro, Nicoletta, Antonella Zagaria, Luisa Anelli, Francesco Tarantini, Giuseppina Tota, Maria Rosa Conserva, Cosimo Cumbo, Elisa Parciante, Immacolata Redavid, Giuseppe Ingravallo, and et al. 2023. "Optical Genome Mapping as a Tool to Unveil New Molecular Findings in Hematological Patients with Complex Chromosomal Rearrangements" Genes 14, no. 12: 2180. https://doi.org/10.3390/genes14122180