chromosomal aberration

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chromosomal aberration

A scientist examines a karyotype showing a chromosomal aberration.

Definition

Noun A change from the normal structure or number of chromosomes in a cell. Such changes often lead to physical or mental developmental differences or health conditions.

Usage

The term is used primarily in genetics, biology, and medicine to describe a category of genetic disorders. It is a formal, scientific term. - It refers to the event or condition itself. - It is often discussed in contexts of diagnosis, research, or inheritance.

Examples
  • Down syndrome is caused by a chromosomal aberration called trisomy 21.
  • The geneticist identified a chromosomal aberration in the patient's karyotype.
  • Some chromosomal aberrations occur spontaneously during the formation of reproductive cells.
Advanced Usage
  • "Constitutional chromosomal aberration": An aberration present in all cells of an individual's body, typically present from conception.
  • "Acquired or somatic chromosomal aberration": An aberration that occurs in certain cells of the body after conception, often linked to cancers like leukemia.
Variants and Related Words
  • Chromosomal abnormality: A very common synonym with identical meaning.
  • Chromosome disorder: A broader term focusing on the resulting medical condition.
  • Aneuploidy: A specific type of chromosomal aberration involving an abnormal number of chromosomes (e.g., one extra or one missing).
  • Structural aberration: A type of chromosomal aberration involving changes in a chromosome's structure, such as deletions, duplications, inversions, or translocations.
Synonyms
  • Chromosomal abnormality
  • Chromosome anomaly
  • Cytogenetic abnormality
Related Phrases
  • "Carry a chromosomal aberration": To have such a change in one's genetic makeup.
    • The prenatal test revealed the fetus carried a chromosomal aberration.
  • "Result from a chromosomal aberration": To be caused by such a change.
    • The developmental delays resulted from a rare chromosomal aberration.
chromosomal aberration

A scientist examines a karyotype showing a chromosomal aberration.

Noun
  1. any change in the normal structure or number of chromosomes; often results in physical or mental abnormalities

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