AI Article Synopsis
- The study evaluates the effectiveness of optical genome mapping (OGM) in identifying chromosomal structural abnormalities like ring chromosomes and translocations in patients undergoing genetic testing.
- Four patients' clinical data were analyzed, and OGM was compared with techniques like chromosomal microarray analysis and fluorescence in situ hybridization.
- OGM successfully detected certain chromosomal abnormalities and provided detailed breakpoint mapping, although it was not able to identify all abnormalities in some cases, suggesting it has both strengths and limitations in clinical diagnostics.
Article Abstract
Objective: To assess the value of optical genome mapping (OGM) for the detection of chromosomal structural abnormalities including ring chromosomes, balanced translocations, and insertional translocations.
Methods: Clinical data of four patients who underwent pre-implantation genetic testing concurrently with OGM and chromosomal microarray analysis at the Center of Reproductive Medicine of the Sixth Affiliated Hospital of Sun Yat-sen University from January to October 2022 due to chromosomal structural abnormalities were selected as the study subjects. Some of the results were verified by multi-color fluorescence in situ hybridization.
Results: The OGM has successfully detected a balanced translocation and fine mapped the breakpoints in a patient. Among two patients with insertional translocations, OGM has provided more refined breakpoint locations than karyotyping analysis in a patient who had chromosome 3 inserted into chromosome 6 and determined the direction of the inserted fragment. However, OGM has failed to detect the chromosomal abnormality in a patient with chromosome 8 inserted into the Y chromosome. It has also failed to detect circular signals in a patient with ring chromosome mosaicism.
Conclusion: OGM has successfully detected chromosomal structural variations in the four patients and provided assistance for their diagnosis.
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| http://dx.doi.org/10.3760/cma.j.cn511374-20230107-00013 | DOI Listing |
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