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A molecular cytogenetic approach to the diagnosis of complex chromosomal rearrangement between chromosomes 4, 13, 5
https://doi.org/10.25557/2073-7998.2025.10.45-48
Abstract
A case of molecular cytogenetic diagnosis of de novo complex chromosomal rearrangement (CCP) in a patient with congenital malformations and psychomotor development delay is presented. The use of molecular cytogenetic methods revealed that CCP is more complex than was proposed by standard cytogenetic diagnosis.
Supporting agencies: The study was carried out on the state assignment of the Ministry of Science and Higher Education (No 122032300370-1).
About the Authors
M. M. Antonova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st, Moscow 115522
N. Yu. Kuzina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st, Moscow 115522
A. E. Voskanyan
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st, Moscow 115522
A. S. Iakovleva
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st, Moscow 115522
N. V. Shilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st, Moscow 115522
References
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2. chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay. Mol Cytogenet. 2014; 7: 50. https://doi.org/10.1186/1755-8166-7-50
3. Liu D., Chen C., Huang Q., et al. Preimplantation genetic testing for complex chromosomal rearrangements: clinical outcomes and potential risk factors. Front Genet. 2024;15:1401549. doi: 10.3389/fgene.2024.1401549
4. Pellestor F., Gatinois V. Chromoanagenesis: a piece of the macroevolution scenario. Mol Cytogenet. 2020;13:3. doi: 10.1186/s13039-020-0470-0
Review
For citations:
Antonova M.M., Kuzina N.Yu., Voskanyan A.E., Iakovleva A.S., Shilova N.V. A molecular cytogenetic approach to the diagnosis of complex chromosomal rearrangement between chromosomes 4, 13, 5. Medical Genetics. 2025;24(10):45-48. (In Russ.) https://doi.org/10.25557/2073-7998.2025.10.45-48
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