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Karyotyping
Karyotyping


Karyotyping

Alternative Names:
Chromosome analysis

What the risks are:

The risks are related to the procedure used to obtain the specimen. There is a specialized kind of risk in that an abnormal result may have occurred during growth of the cells after they left the body. For this reason it is often prudent to repeat the karyotype test to confirm that the abnormal chromosome constitution is in the body of the patient.

There is a rare difference between the apparent sex of the patient and their chromosomes. For example, a baby may look like it has a penis and be called a boy but turn out to have the chromosomes of a girl. This can raise issues of what gender to raise the child.



Special considerations:

Chemotherapy may cause chromosome breaks interfering with normal results. Mixtures of 2 different populations of cells or chromosome constititutions are sometimes observed. This is called mosaicism and is more common in chorionic villus sampling or amniocentesis. It does not necessarily mean that the baby has abnormal chromosomes.

Your doctor may also order a test called telomeres that looks at the ends of the chromosomes. It is often ordered along with the karyotyping test.




Review Date: 4/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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