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Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with an abnormal phenotype and no clinically significant CNVs
https://doi.org/10.25557/2073-7998.2025.11.90-92
Abstract
We present data from ROH analysis in a cohort of patients without clinically significant CNVs. The study cohort consisted of 561 patients. Multiple ROHs exceeding 1% of the total autosomal genome were observed in 8 patients and in 8 cases single or multiple ROHs larger than 7Mb were localized on the same chromosome.
Keywords
microarrays,
developmental disorders,
SNPs,
ROH,
homozygosity,
uniparental disomy (UPD),
imprinting,
mosaic
Supporting agencies: The research was carried out within the state assignment of the Ministry of Education and Science of the Russian Federation (project No. 122032300370-1)
About the Authors
Zh. G. Markova
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. Nakka P., Pattillo Smith S., O’Donnell-Luria A.H., et al. Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population. Am J Hum Genet. 2019;105(5):921-932. doi: 10.1016/j.ajhg.2019.09.016.
3. Lebedev I.N., Shilova N.V., Iourov I.Yu., et al. Rekomendatsii Rossiyskogo obshchestva meditsinskikh genetikov po khromosomnomu mikromatrichnomu analizu [Guidelines of the Russian Society of Medical Geneticists for Chromosomal Microarray Analysis]. Meditsinskaya genetika [Medical Genetics]. 2023;22(10):3-47. (In Russ.) https://doi.org/10.25557/2073-7998.2023.10.3-47
4. Liehr T. Uniparental disomy is a chromosomic disorder in the first place. Mol Cytogenet. 2022;15(1):5. doi: 10.1186/s13039-022-00585-2
Review
For citations:
Markova Zh.G., Iakovleva A.S., Shilova N.V. Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with an abnormal phenotype and no clinically significant CNVs. Medical Genetics. 2025;24(11):90-92. (In Russ.) https://doi.org/10.25557/2073-7998.2025.11.90-92
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