CYTOGENTIC
Cytogentics is the study of chromosome structure, function and abnormalities during the cell division, mitosis as a division of somatic cells and meiosis as a division of germ cells. The final goal of studying chromosomes is to link the results of chromosome analysis with the general principles of genetics. Below are a few basic concepts that give an insight into the application of cytogentics in medicine.
Chromosome abnormalities include abnormalities of structure and number of chromosomes and are the result of errors during cell division. They are very common and occur in 1-2% of livebirths, 5% of stillbirths and approximately 50% of early fetal losses in the first trimester of pregnancy. Chromosome abnormalities are most common in people with mental retardation, multiple congenital anomalies and dysmorphia, and those are the most common indications for cytogentic testing. Also, it is proven that chromosome anomalies have a role in the development of some neoplasms.
Cytogentics is the study of chromosome structure, function and abnormalities during the cell division, mitosis as a division of somatic cells and meiosis as a division of germ cells. The final goal of studying chromosomes is to link the results of chromosome analysis with the general principles of genetics. Below are a few basic concepts that give an insight into the application of cytogentics in medicine.
Chromosome abnormalities include abnormalities of structure and number of chromosomes and are the result of errors during cell division. They are very common and occur in 1-2% of livebirths, 5% of stillbirths and approximately 50% of early fetal losses in the first trimester of pregnancy. Chromosome abnormalities are most common in people with mental retardation, multiple congenital anomalies and dysmorphia, and those are the most common indications for cytogentic testing. Also, it is proven that chromosome anomalies have a role in the development of some neoplasms.
Karyotype and karyogram
Chromosomes contain genetic substance of an organism. In human somatic cells there are 46 chromosomes or 23 pairs, 22 homologous pairs are classified as autosomes or somatic cell chromosomes and 1 pair as sex chromosomes or gonosom. Sex chromosomes differ in men and women: XX for women and XY for men.
The term karyotype represents chromosomal complement of an individual, and is different than the term karyogram. Karyogram is the way in which we present karyotype or a chromosomal set of a single cell.
Basic chromosome analysis (karyogram) is consisted of a series of laboratory techniques. Cells of interest (lymphocytes, fibroblasts) are being cultivated, which is followed by series of cells treatment steps needed to prepare chromosomal spreads which are then stained and observed under the light microscope. The main goal of this analysis is to determine the number of chromosomes and analyze their structure and to classify chromosomes according to internationally accepted classification of chromosomes.
Chromosomes contain genetic substance of an organism. In human somatic cells there are 46 chromosomes or 23 pairs, 22 homologous pairs are classified as autosomes or somatic cell chromosomes and 1 pair as sex chromosomes or gonosom. Sex chromosomes differ in men and women: XX for women and XY for men.
The term karyotype represents chromosomal complement of an individual, and is different than the term karyogram. Karyogram is the way in which we present karyotype or a chromosomal set of a single cell.
Basic chromosome analysis (karyogram) is consisted of a series of laboratory techniques. Cells of interest (lymphocytes, fibroblasts) are being cultivated, which is followed by series of cells treatment steps needed to prepare chromosomal spreads which are then stained and observed under the light microscope. The main goal of this analysis is to determine the number of chromosomes and analyze their structure and to classify chromosomes according to internationally accepted classification of chromosomes.
