Glossary

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  • Carrier/Carrier Status

    Used to describe a person who has (or “carries”) a gene change (“mutation”). Usually the term carrier refers to people who do not have the disorder associated with that gene change, but who may pass the gene change on to their children. For example, a woman who has one changed sickle cell gene and one working gene copy technically “carries” the sickle cell gene change. If her child inherits just one copy of the mutation, the child is a carrier. If both parents of a child are carriers, each child has a 1 in 4 (25 percent chance) of inheriting the gene change from both parents and thus have the condition sickle cell anemia. See also autosomal recessive.
  • Chromosome

    In humans, chromosomes are found in the cell nucleus and are made of DNA and proteins. Chromosomes carry genetic information.
  • Chromosome Abnormalities

    Refers to a change in the structure or number of chromosomes. These changes can cause a genetic conditions.
  • Chromosome Breakage

    Refers to breaking of chromosomes and can cause genetic diseases or conditions.
  • Complex traits

    Conditions that result from a combination of multiple genetic and environmental factors (such as lifestyle choices about diet and exercise), only some of which might be known. No single gene or environmental factor causes a complex trait. Examples of complex traits are heart disease and diabetes. See multifactorial traits.
  • Condition

    Refers to a medical condition or medical disorder. A medical condition can be an incorrectly functioning body system, organ, body part, or structure. Causes include genetic or developmental abnormalities, infection, poisons, nutritional deficiency, toxicity, or harmful things in the environment where a person lives. Typically refers to a person who is well or healthy but has a medical abnormality. Often used interchangeably with disease and disorder.
  • Congenital

    Present at birth.
  • Cytosine

    One of the four DNA bases, abbrieviated as C. See base.

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Your genome is your entire genetic code or all of the DNA in a cell.

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Most human cells have 46 chromosomes that provide the genetic instructions for a body to live, grow, and develop.

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