Guidelines of the Russian Society of Medical Geneticists for Chromosomal Microarray Analysis
https://doi.org/10.25557/2073-7998.2023.10.3-47
Abstract
Chromosomal microarray analysis is the state-of-the-art of clinical cytogenetics, providing efficient and high-resolution diagnostics of unbalanced chromosomal rearrangements. Current recommendations define the indications for chromosomal microarray analysis in postnatal and prenatal diagnostics of constitutive chromosomal anomalies. Approaches to interpretation of the clinical significance of detected chromosomal variants, as well as genetic counseling for families of patients with chromosomal diseases are discussed. Emphasis is given to the priority of expert opinion and collaboration between molecular cytogeneticist and clinical geneticist in assessing the pathogenetic significance of chromosomal variants and the strategy for subsequent laboratory examination of the patient.
Keywords
chromosomal microarray analysis (CMA),
array-based comparative genomic hybridization (array-CGH),
molecular karyotyping,
copy number variations (CNV),
chromosomal mosaicism,
prenatal diagnosis,
genetic counselling
Supporting agencies: Russian Science Foundation, № 21-65-00017, https://rscf.ru/en/project/21-65-00017/
About the Authors
I. N. Lebedev
Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
N. V. Shilova
Research Center for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
I. Yu. Iourov
Mental Health Research Center; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
34, Kashirskoe shosse, Moscow, 115522
2 Taldomskaya st., Moscow, 125412
O. V. Malysheva
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
3, Mendeleevskaya line, Saint Petersburg, 199034
A. A. Tveleneva
Center of Genetics and Reproductive Medicine “Genetico”
Russian Federation
Russian Federation
3, bldg.1, Gubkina st., Moscow, 119333
M. E. Minzhenkova
Research Center for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
Zh. G. Markova
Research Center for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
E. N. Tolmacheva
Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
A. A. Kashevarova
Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
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For citations:
Lebedev I.N., Shilova N.V., Iourov I.Yu., Malysheva O.V., Tveleneva A.A., Minzhenkova M.E., Markova Zh.G., Tolmacheva E.N., Kashevarova A.A. Guidelines of the Russian Society of Medical Geneticists for Chromosomal Microarray Analysis. Medical Genetics. 2023;22(10):3-47. (In Russ.) https://doi.org/10.25557/2073-7998.2023.10.3-47
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