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.


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.


Chromosomes are stained using dyes such as Giemsa, which produce characteristic banding patterns that help identify structural abnormalities.


It is crucial in clinical genetics for diagnosing chromosomal disorders, identifying genetic diseases, and assessing the risk of genetic conditions in offspring.

Clinical Applications

Karyotyping is used in research to study evolutionary relationships, population genetics, and understanding chromosomal variations across species.


It can detect abnormalities such as aneuploidy (extra or missing chromosomes), deletions, duplications, and translocations.

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.

Prenatal Diagnosis

Recent advancements include automated karyotyping systems that enhance accuracy and efficiency in analyzing chromosomes.

Technological Advances

Results are interpreted by cytogeneticists and genetic counselors to provide accurate diagnoses and counseling to patients and their families.