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DOI: 10.24075/brsmu.2025.050
Copyright: © 2025 by the authors. Licensee: Pirogov University.
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (CC BY).

ORIGINAL RESEARCH

Molecular cytogenetic characterization of a rare recombinant chromosome 22 caused by a maternal intrachromosomal insertion

Yurchenko DA, Markova ZhG, Petukhova MS, Matyushchenko GN, Shilova NV
About authors

Research Centre for Medical Genetics, Moscow, Russia

Correspondence should be addressed: Darya A. Yurchenko
Moskvorechye, 1, Moscow, 115522, Russia; ur.liam@vblahsad

About paper

Funding: this research was supported by the Ministry of Science and Higher Education of the Russian Federation (#FGFF-2023-0003).

Author contribution: Yurchenko DA — study design, development of homemade DNA probes, conducting FISH analysis and interpreting the data, manuscript preparation; Markova ZhG — conducting FISH analysis using commercial DNA probes; Petukhova MS and Matyushchenko GN — clinical genetic counseling of the family; Shilova NV — study conception and design, discussion of results, and scientific editing of the manuscript.

Compliance with ethical standards: the study was approved by the Ethics Commitee of the Research Centre for Medical Genetics (protocol No. 4/2 dated 19 April 2021). The informed consent for participation in the research study was obtained from the patients.

Received: 2025-09-16 Accepted: 2025-10-16 Published online: 2025-10-26
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