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Harlequin Ichthyosis - Glossary

Glossary

Mutation: Any change in the DNA of a cell. Mutations may be caused by mistakes during cell division, or they may be caused by exposure to DNA-damaging agents in the environment. Mutations can be harmful, beneficial, or have no effect.

Amniocentesis: A procedure in which a small amount of amniotic fluid is removed and analyzed to detect various genetic characteristics or lung maturity of the unborn baby.

Chorionic villus sampling: A procedure in which a small sample of cells are removed from the placenta where it joins the uterus. Used to test for chromosome abnormalities such as Down syndrome in the fetus.

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