Interpretation of a patient`s phenotype using a complex of molecular cytogenetic methods
Abstract
Introduction: Congenital and hereditary diseases are largely represented by chromosomal pathology. In this regard, early diagnosis, treatment, rehabilitation, prevention of the origin and distribution of these diseases are of particular importance. Aim: Using a combination of cytogenetic methods, literature data and investigating several types of cells, to find out the genetic causes of disease in the patient. Materials and methods: Peripheral blood lymphocytes and skin fibroblasts were obtained from the proband. The study was performed using metaphase analysis, array comparative genomic hybridization (aCGH) on 8х60K microarrays (Agilent Technologies), real-time PCR and fluorescent in situ hybridization (FISH). Results: The patient with r(13) had several symptoms not associated with this chromosomal abnormality. In addition to the terminal del13q34, which caused the formation of r(13), trip3q12 was identified. In fibroblasts monosomy 13 was additionally detected during aCGH-analysis. Using FISH-analysis 47% and 50% of cell with monosomy 13 were detected among lymphocytes and fibroblasts, respectively. Conclusion: In the case of a chromosomal pathology a complex approach, involving the application of adequate research methods, analysis of several tissues in complex cases, work with literature and databases, and interaction of physicians and specialists of different profiles, will allow to explain the patient’s symptoms, provide an objective prognosis of the disease, and propose treatment.
Keywords
метафазный анализ,
флюресцентная in situ гибридизация (FISH),
матричная сравнительная геномная гибридизация (aCGH),
кольцевая хромосома,
моносомия,
делеция,
трипликация,
metaphase analysis,
fluorescent in situ hybridization (FISH),
array comparative genomic hybridization (aCGH),
ring chromosome,
monosomy,
deletion,
triplication
About the Authors
A. A. Kashevarova
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
E. O. Belyaeva
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
A. M. Nikonov
Diagnostic Center of the Altai Region
Russian Federation
Russian Federation
O. V. Plotnikova
Diagnostic Center of the Altai Region
Russian Federation
Russian Federation
I. G. Gergert
Altai Regional Clinical Perinatal Center «Dar»
Russian Federation
Russian Federation
T. V. Nikitina
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
N. A. Skryabin
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
S. A. Vasilyev
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
M. E. Lopatkina
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
A. V. Churilova
Tomsk State University
Russian Federation
Russian Federation
E. N. Tolmacheva
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
L. P. Nazarenko
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
I. N. Lebedev
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
References
1. Протокол aCGH для микрочипов Agilent Technologies - http://www.chem-agilent.com/pdf/G4410-90020v3_1_CGH_ULS_Protocol.pdf
2. База данных геномных вариантов - http://projects.tcag.ca/variation/?source=hg18
3. База о генах - https://www.ncbi.nlm.nih.gov/gene
4. Xu F, DiAdamo AJ, Grommisch B, Li P. Interstitial duplication and distal deletion in a ring chromosome 13 with pulmonary atresia and ventricular septal defect: a case report and review of literature. N A J Med Sci. 2013; 6(4):208-212.
5. Brandt CA, Hertz JM, Petersen MB et al. Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q. J Med Genet. 1992; 29:704-708.
6. Izykowska K, Przybylski GK, Gand C et al. Genetic rearrangements result in altered gene expression and novel fusion transcripts in Sezary syndrome. Oncotarget. 2017; 8(24):39627-39639.
Review
For citations:
Kashevarova A.A., Belyaeva E.O., Nikonov A.M., Plotnikova O.V., Gergert I.G., Nikitina T.V., Skryabin N.A., Vasilyev S.A., Lopatkina M.E., Churilova A.V., Tolmacheva E.N., Nazarenko L.P., Lebedev I.N. Interpretation of a patient`s phenotype using a complex of molecular cytogenetic methods. Medical Genetics. 2017;16(11):46-50. (In Russ.)
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