Интерпретация фенотипа пациента c учетом результатов комплексных молекулярно-цитогенетических исследований

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.