genetic abnormality
Học thuậtThân thiện
Definition
Noun: A disease or disorder that is caused by an alteration in an individual's DNA sequence or chromosomal structure and is passed from parents to offspring through genetic inheritance. These conditions result from mutations in genes or chromosomes.
Usage
This term is used in medical, biological, and genetic contexts to describe a wide range of inherited health conditions. It is a formal and technical term.
Examples: * Cystic fibrosis is a well-known genetic abnormality. * The screening test can detect certain genetic abnormalities in the fetus. * Researchers are studying the genetic abnormality responsible for the disorder.
Advanced Usage
- "Constitutional genetic abnormality": Refers to an abnormality present in all cells of an individual's body from conception, as opposed to one acquired later in life (somatic mutation).
- The term is often used in contrast with congenital disorders, which are present at birth but are not always inherited (some can be caused by environmental factors during pregnancy).
Variants and Related Words
- Genetic disorder (n): A more common synonym.
- Hereditary disease (n): A closely related term emphasizing the inheritance aspect.
- Inborn error of metabolism (n): A specific class of genetic abnormality involving biochemical pathways.
- Chromosomal abnormality (n): A subtype involving changes in chromosome number or structure (e.g., Down syndrome).
Synonyms
- Inherited disorder
- Hereditary condition
- Genetic disease
- Genetic defect
Related Phrases
- Carry a genetic abnormality: To possess the gene mutation for a disorder, which may or may not cause symptoms in the carrier.
- Both parents carry the genetic abnormality for sickle cell anemia.
- Genetic predisposition: An increased likelihood of developing a disease due to genetic factors, which is a broader concept than a definitive genetic abnormality.
Noun
- a disease or disorder that is inherited genetically