Laboratory of cytogenetics

Nadezhda V. Shilova -
head of the laboratory,
DSci, MD, highest category clinical geneticist


     Nadezhda V. Shilova - head of the laboratory, DSci, MD
  1. Natalia A. Lyapunova - chief research scientist, professor, DSci
  2. Zhanna G. Markova – senior research scientist, PhD
  3. Marina E. Min'zhenkova – senior research scientist, PhD
  4. Elizaveta V. Musatova - research scientist
  5. Anastasia A. Tarlycheva – junior research scientist
  6. Aleksandra A. Tveleneva - intern, junior research scientist (part-time job)
  7. Anna V. Malyutina - laboratory assistant
  8. Irina V. Morozova - laboratory assistant


1 Moskvorechie, 4th floor,

(rooms 404, 406, 407), Moscow

Tel.: +7-499-612-80-40

Main publications:

Defended theses:

The laboratory of cytogenetics was founded in 2014 as a result of reorganization of the laboratory of prenatal diagnosis; the latter was headed by Professor Tatyana V. Zolotukhina for more than twenty years. The continuity and vast experience gained over the long years of the laboratory's existence are the basis of theoretical and practical activities aimed currently at the study of the structural organization of the genome in rare chromosome disorders and development of modern methods of non-invasive prenatal diagnosis.

The study of structural genome variability caused by pathogenetically significant variations in the number of DNA copies (CNVs) at the microscopic and submicroscopic level using high-tech molecular cytogenetic research methods such as fluorescent in situ hybridization (FISH), multi-color FISH technologies and comparative genomic hybridization (CGH) is one of the fields of scientific research of the cytogenetics laboratory. Unbalanced structural variants or variations in the number of copies DNA units as one of the mutational forms of structural genome variability is the basis of the genomic imbalance. This imbalance is often accompanied by impairment of a large number of dose-sensitive genes that regulate and control the normal development of the body, which leads to the development of chromosomal diseases. The main task of the laboratory in this field is development of approaches and strategies for identification of chromosomal micro and macro rearrangements, as well as the study of mechanisms of genomic imbalance, which is an etiological factor of chromosomal diseases.

Although variations in the number of DNA copies are detected in the genome everywhere, there are areas most prone to this kind of rearrangement. This is due to the peculiarities of the human genome architecture, namely, the presence of a special class of highly homologous duplicated DNA sequences or segmental duplications, which tend to cluster in the pericentromeric and subtelomeric regions of chromosomes. Such blocks of segmental duplications are a substrate for formation of CNVs, which, in turn, can be both a source of structural polymorphism and a cause of genetically determined comditions, for example, congenital heart disease (CHD). Therefore, special attention is paid to the study of associations of CHD in combination with extracardiac pathology and pathogenetically significant CNVs in subtelomeric and pericentromeric regions of chromosomes, as well as development of a strategy for selective screening of DNA copy number variations in these patients.

Information about the topography and structure of the genomic imbalance allows not only to clarify the mechanism of its development, but is also important for genetic family counseling and for identifying the nature of the rearrangement (hereditary or de novo). Determining the degree of genetic risk and the severity of medical and social consequences of the suspected pathology permits to develop correct tactics of preventive measures to prevent the birth of a sick child. Therefore, the study of meiotic segregation in men with genomic structural variants in the form of small supernumerary marker chromosomes and in carriers of balanced rare chromosomal abnormalities, as well as factors affecting the formation of gametes due to pathological meiotic segregation is another area of scientific activity of the cytogenetics laboratory.

In continuation of the scientific traditions of the laboratory of prenatal diagnosis, attention is paid to such an important problem as non-invasive prenatal diagnosis in the study of fetal cells circulating in the blood of women during pregnancy. At present, development, optimization and implementation in clinical practice of non-invasive methods of prenatal diagnosis allowing the analysis of the fetal genetic status without any damage to the developing fetus and the pregnant woman are especially important. During pregnancy, there is an amazing phenomenon of transplacental migration of cells in mother's body, so that they can be detected in the peripheral blood of a pregnant woman. This unique availability of genetic material of the fetus has led to the intensive development of its research methods.

At present, the scientific activities of the laboratory are focused on the development of a protocol for the study of the genome of cytotrophoblast cells to identify chromosomal abnormalities in the fetus. Much work is being done to optimize the protocols of isolation and detection of cytotrophoblast cells from the blood of pregnant women using laser microdissection of single cells and their subsequent analysis by the CGH technique.

The practical work includes cytogenetic and molecular genetic diagnosis of chromosomal rearrangements in patients with mental retardation, developmental abnormalities or reproductive problems. In addition, the laboratory has developed an algorithm for the study of abortive material using the metaphase CGH method in non-developing pregnancy, which also includes interphase FISH for the detection of polyploidy in the fetus. This whole-genome approach makes it possible to identify all chromosomal abnormalities that are an etiological factor in non-developing pregnancy.