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Value of Optical Genome Mapping (OGM) for Diagnostics of Rare Diseases: A Family Case Report Cover

Value of Optical Genome Mapping (OGM) for Diagnostics of Rare Diseases: A Family Case Report

Balkan Journal of Medical Genetics
Volume 27 (2024): Issue 2 (December 2024)
By:
Open Access
|Mar 2025

Figures & Tables

Figure 1.

Optical genome mapping results showing molecules involved in the translocation mapping to chromosome 18 and chromosome X.
Optical genome mapping results showing molecules involved in the translocation mapping to chromosome 18 and chromosome X.

Figure 2.

Family pedigree and segregation analysis results. # family members in whom karyotyping, microarray and NGS were performed. * family members in whom OGM was performed.
Family pedigree and segregation analysis results. # family members in whom karyotyping, microarray and NGS were performed. * family members in whom OGM was performed.

Clinical characteristics of the probands

Clinical characteristicsProband 1Proband 2Onset
Age at first visit11 yr. & 11 mo.3yr. & 6 mo.
Early developmentHyperactivityNormal
Teratoma regio sacro-coccigealis++Neonatal
Hydronephrosis / *RVU+ (right side)+ (left side)Neonatal
Thrombocytopenia++Neonatal
Purpura, petechiae, bruises++Infancy
Premaxillary prominence++Toddler
Juvenile palmoplantar dermatosis++Toddler
Obesitas++Toddler
Hypo-imunoglobulinaemia+ 10 yr.
Ameloblastoma mandibulae+ 10 yr.
Intellectual disability, mild+ 6 – 7 yr.
Epilepsia+ 14 yr.
Cerebral dysmyelination (MRI)+ 17 yr.
Frontoparietal polymicrogyria (MRI)+ 17 yr.
DOI: https://doi.org/10.2478/bjmg-2024-0021 | Journal eISSN: 2199-5761
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Language: English
Page range: 87 - 93
Published on: Mar 6, 2025
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 times per year
Keywords:
Optical genome mapping,
OGM,
structural variants (SV),
genomic variants,
rare disease genetic testing
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2025 A Kovanda, O Miljanović, L Lovrečić, A Maver, A Hodžić, B Peterlin, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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