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Karyotyping

Definition

Karyotyping is a test to examine chromosomes in a sample of cells. This test can help identify genetic problems as the cause of a disorder or disease.

How the Test is Performed

The test can be performed on almost any tissue, including:

• Amniotic fluid

• Blood

• Bone marrow

• Tissue from the organ that develops during pregnancy to feed a growing baby (placenta)

To test amniotic fluid, an amniocentesis is done.

A bone marrow biopsy is needed to take a sample of bone marrow.

The sample is placed into a special dish or tube and allowed to grow in the lab. Cells are later taken from the new sample and stained. The lab specialist uses a microscope to examine the size, shape, and number of chromosomes in the cell sample. The stained sample is photographed to show the arrangement of the chromosomes. This is called a karyotype.

Certain problems can be identified through the number or arrangement of the chromosomes. Chromosomes contain thousands of genes that are stored in DNA, the basic genetic material.

How to Prepare for the Test

Follow your health care provider's instructions on how to prepare for the test.

How the Test will Feel

How the test will feel depends on whether the sample procedure is having blood drawn (venipuncture), amniocentesis, or bone marrow biopsy.

Why the Test is Performed

This test can:

• Count the number of chromosomes

• Look for structural changes in chromosomes

This test may be done:

• On a couple that has a history of miscarriage

• To examine any child or baby who has unusual features or developmental delays

• Any person who is suspected to have a genetic disorder

The bone marrow or blood test can be done to identify the Philadelphia chromosome, which is found in 85% of people with chronic myelogenous leukemia (CML).

The amniotic fluid test is done to check a developing baby for chromosome problems.

Your provider may order other tests that go together with a karyotype:

• Microarray: Looks at small changes in the chromosomes

• Fluorescent in situ hybridization (FISH): Looks for small mistakes such as deletions in the chromosomes

Normal Results

Normal results are:

• Females: 44 autosomes (non-sex chromosomes) and 2 sex chromosomes (XX), written as 46, XX

• Males: 44 autosomes and 2 sex chromosomes (XY), written as 46, XY

What Abnormal Results Mean

Abnormal results may be due to a genetic syndrome or condition, such as:

• Down syndrome

• Klinefelter syndrome

• Philadelphia chromosome

• Trisomy 18

• Turner syndrome

Chemotherapy may cause chromosome breaks that affect normal karyotyping results.

Risks

Risks are related to the procedure used to obtain the sample.

In some cases, a problem may occur in the cells growing in the lab dish. Karyotype tests should be repeated to confirm that an abnormal chromosome problem is actually in the body of the person.

References

Bacino CA, Lee B. Chromosome disorders In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 99.

Perle MA, Stein CH. Applications of cytogenetics in modern pathology. In: McPherson RA, Pincus MR, eds. Henry's Clinical Diagnosis and Management by Laboratory Methods. 24th ed. Philadelphia, PA: Elsevier; 2022:chap 71.

Review Date: 11/6/2024

Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.