guidebook. - Fanconi Anemia Research Fund

Glossary
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hypersensitivity to DEB (as in patients with FA). These
cells may also be tested for HLA matching.
Chromosomes: Structures in the cell nucleus which
contain the genes responsible for heredity. Normal
human cells contain twenty-three pairs of chromosomes.
One of each pair is inherited separately from a
person’s father and mother. 2
Cirrhosis: Scarring of the liver and poor liver function
as a result of chronic liver disease. 5
Clastogen: An agent that causes breaks in chromosomes.
6
Colony stimulating factors (also known as hematopoietic
growth factors or cytokines): Substances
produced naturally by the body (and also synthetically)
which stimulate the production of certain blood cells.
Examples are G-CSF (Neupogen), GM-CSF, various
“interleukins,” stem cell factor (or steel factor), erythropoietin
(EPO, Epogen), etc. 2
Colposcopy: An examination by means of a colposcope,
a magnifying instrument designed to facilitate
visual inspection of the vagina and cervix. The instrument
usually contains a green filter which enables the
clinician to see abnormal vessels related to any lesions.
Comparative genomic hybridization (CGH): A fluorescent
molecular cytogenetic technique that identifies
DNA gains, losses, and amplifications, mapping these
variations to normal chromosomes. It is a powerful
tool for screening chromosomal copy number changes
in tumor genomes and has the advantage of analyzing
entire genomes within a single experiment. 10