Absence
of a segment of DNA; may be as small as a single base or large enough to
encompass one or more entire genes. Large deletions involving a whole segment
of a chromosome may be detected by routine examination of the chromosomes;
intermediate deletions involving a few genes may be detected by using fluorescent
in situ hybridization (FISH); smaller deletions involving a portion of a
gene may only be detected by analyzing the DNA.
Definition from: GeneTests
from the University of Washington and Children's Health System, Seattle