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    Chromosome analysis

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

    • Count the number of chromosomes
    • Look for structural changes in chromosomes

    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 biopsyis needed to take a sample of bone marrow.

    The sample is placed into a special dish or tubeand allowed to grow in the laboratory. Cells are later taken from thenewsample and stained. The laboratory specialist uses a microscope to examine the size, shape, and number of chromosomes in the cell sample. The stained sample is photographed to shows the arrangement of the chromosomes. This is called a karotype.

    Certainproblems 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

    There is no special preparation needed.

    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 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

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

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

    Normal Results

    • Females: 44 autosomes 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

    This list is not all-inclusive.

    Additional conditions under which the test may be performed:

    • Ambiguous genitalia
    • Chronic myelogenous leukemia (CML) or other leukemias
    • Developmental delays
    • Multiple birth defects


    The risks are related to the procedure used to obtain the sample. Procedures that may be done to take the sample include:

    • Amniocentesis
    • Bone marrow biopsy
    • Chorionic villus sampling
    • Venipuncture

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


    Chemotherapy may cause chromosome breaks that affect normal karotyping results.

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

    • Microarray -- looks at small changes in the chromosomes
    • Fluorescent in situ hybridisation (FISH) -- looks for small mistakes such as deletions in the chromosomes


    • Karyotyping


      • Karyotyping


      Tests for Karyotyping

      Review Date: 11/2/2012

      Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by A.D.A.M. Health Solutions, Ebix, Inc., Editorial Team: David Zieve, MD, MHA, David R. Eltz, and Stephanie Slon.

      The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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