Karyotyping

Test Overview

Karyotype is a test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells. Extra or missing chromosomes, or abnormal positions of chromosome pieces, can cause problems with a person's growth, development, and body functions.

Why It Is Done

Karyotyping is done to:

Find out whether the chromosomes of an adult have a change that can be passed on to a child.

Find out whether a chromosome defect is preventing a woman from becoming pregnant or is causing miscarriages.

Find out whether a chromosome defect is present in a fetus. Karyotyping also may be done to find out whether chromosomal problems may have caused a fetus to be stillborn.

Find out the cause of a baby's birth defects or disability.

Help determine the appropriate treatment for some types of cancer.

Identify the sex of a person by checking for the presence of the Y chromosome. This may be done when a newborn's sex is not clear.