guidebook. - Fanconi Anemia Research Fund

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Fanconi Anemia: Guidelines for Diagnosis and Management
Microphthalmia: Abnormal smallness of the eye, usually
occurring as a congenital anomaly. 1
Mitomycin C (MMC): A chemical which, in sufficient
doses, causes destruction and rearrangement of the
chromosomes in cells. Because Fanconi anemia cells
are unusually sensitive to MMC, it is used to diagnose
this condition. 2
Motile or motility: Exhibiting or capable of movement.
1
Murine model: A model of disease for use in research,
using mice as the model animal for preclinical experimentation.
1
Mutation: A mutation is a change in the DNA of a gene
that causes the gene either not to make any protein or
to change the protein so that it does not work correctly.
DNA is made up of the chemical letters A, C, T, and
G. A mutation can be the addition, deletion, or simply
a change in the chemical letters of DNA that makes up
the gene.
Myelodysplasia (MDS or myelodysplastic syndrome):
Abnormal production, maturation, and appearance
of blood cells; often leading to deficiency of red
cells, white cells and platelets; sometimes leading to
bone marrow failure or leukemia. 2
Myelosuppressive: Suppression of the bone marrow’s
production of blood cells and platelets. 1
Myocardium: The middle muscular layer of the heart
wall. 1
Myofasciitis: Inflammation of a muscle and its fascia. 20
Nasogastric tube: A tube inserted through the nasal passages
into the stomach, often used to provide nutrition.