Identification of chromosomal aberrations in the diagnosis of certain genetic disorders

Abstract

Cytogenetics is the analysis of blood or bone marrow cells that focuses on chromosomal rearrangements. Human body cells, exclusive of reproductive cells, have 23 pairs of chromosomes. So, any deviation from this is considered abnormal. In our report, we testified by karyotyping bone marrow samples, taken from seven patients diagnosed with different hematological diseases, that the development of leukemia and other blood cancer involves changes in a cell's genetic material. Metaphase cells underwent G- Banding to identify specific chromosomal rearrangements and translocations. In hematological diseases, particularly in acute leukemias, abnormal and normal karyotypes may be present in the same sample. Structural and numerical chromosomal aberrations were examined in all karyotypes performed. Certain recurrent alterations act as hallmarks of a disease, which facilitates the identification of a specific disease by a cytogeneticist. Complex karyotypes characterized by the presence of three or more abnormalities, are generally associated with poor prognosis. The combination of conventional and molecular cytogenetics would be very useful in the diagnosis and, therefore, in the prescription of specific therapy for the treatment of diseases.