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What Is Chromosome Analysis?

Chromosomes are structures inside your cells that contain all of your genes. If you think of your DNA as a library, each chromosome is a book, and your genes are the chapters inside each book. Each chapter, or gene, contains specific instructions.

Humans have two sets of 23 chromosomes (for a total of 46): 22 pairs of autosomes plus one pair of sex chromosomes (the X and Y chromosomes). We inherit one set of chromosomes from our mother and one set from our father.

Chromosome analysis, also called karyotyping, is usually done using a sample of cells that are easy to collect, such as the white blood cells from a common blood sample. Under proper laboratory conditions, a trained technician can look at chromosomes under a microscope and actually see variations such as missing pieces, duplicated sections, or instances where two chromosomes have swapped genetic material.

The image above is of a normal chromosome analysis. (Note the X and Y chromosomes, which indicate the tester is a man.)

It is important to realize that a chromosome analysis does not tell us everything about our genes and our DNA, but it is a very important overview.

 

Reviewed By:

  • Lee Andress Fallon MS, CGC
  • Lee Andress Fallon MS, CGC

Authored By:

  • Mignon Fogarty MS
  • Mignon Fogarty MS
Next Article: Chromosome Disorders

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