Karyotyping is a laboratory technique used to examine the number, size, and shape of chromosomes in a sample of cells.
It provides a visual representation of an individual's complete set of chromosomes, arranged in pairs, known as a karyogram.
Visualization
Visualization
Cells are typically obtained from blood, bone marrow, amniotic fluid, or other tissues, then cultured and treated to arrest them during metaphase of cell division.
Technique
Technique
Chromosomes are stained using dyes such as Giemsa, which produce characteristic banding patterns that help identify structural abnormalities.
Staining
Staining
It is crucial in clinical genetics for diagnosing chromosomal disorders, identifying genetic diseases, and assessing the risk of genetic conditions in offspring.
Clinical Applications
Clinical Applications
Karyotyping is used in research to study evolutionary relationships, population genetics, and understanding chromosomal variations across species.
Research
Research
It can detect abnormalities such as aneuploidy (extra or missing chromosomes), deletions, duplications, and translocations.
Types of Abnormalities
Types of Abnormalities
In prenatal testing, karyotyping helps identify genetic disorders in embryos or fetuses to inform parents and healthcare providers about potential risks and options.