Definition |
The systematic arrangement, using images, of the 46 human chromosomes of a cell in 22 matched pairs (maternal and paternal member of each pair) by length from longest to shortest and other features. These 22 pairs are referred to as autosomes. The sex chromosomes are shown as a separate pair (either XX or XY). The process of performing a karyotype which is a test to identify chromosome abnormalities as the cause of malformation or disease. This test can both count the number of chromosomes and look for structural changes in chromosomes that may indicate genetic changes associated with increased risk for disease. The test can be performed on a sample of blood, bone marrow, amniotic fluid, or placental tissue.
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