Karyotyping

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Karyotyping

Chromosome analysis

• Females: 44 autosomes and 2 sex chromosomes (XX), denoted 46 (X,X)
• Males: 44 autosomes and 2 sex chromosomes (XY), denoted 46 (X,Y)

Abnormal results may show Down syndrome (Trisomy 21 = three copies of chromosome 21 instead of the normal two copies), Trisomy 18, Philadelphia chromosome, Klinefelter syndrome, Turner syndrome, or other abnormalities.

Additional conditions under which the test may be performed:

• Chronic myelogenous leukemia (CML) or other leukemias
• Multiple birth defects
• A baby born with genitals that are neither completely male or female

Review Date: 04/20/2005
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.