chrosomal abnormality

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Definition

Noun A chromosomal abnormality is any change in the normal structure or number of chromosomes. Such changes often result in physical or mental abnormalities.

Usage

This term is used in genetics, medicine, and biology to describe a category of genetic disorders. It is a formal, technical term.

Examples
  • Down syndrome is caused by a chromosomal abnormality where there is an extra copy of chromosome 21.
  • The prenatal test can detect a chromosomal abnormality in the fetus.
  • Many types of cancer are associated with specific chromosomal abnormalities.
Advanced Usage
  • Constitutional vs. Acquired: A constitutional chromosomal abnormality is present in all cells from birth, while an acquired abnormality occurs in specific cells later in life, often in cancers.
  • Numerical vs. Structural: Abnormalities are classified as numerical (involving an abnormal number of chromosomes, like trisomy) or structural (involving changes in a chromosome's architecture, like a translocation).
Variants and Related Words
  • Chromosomal aberration: A synonym often used interchangeably with chromosomal abnormality.
  • Cytogenetic abnormality: A closely related term focusing on changes visible at the chromosome level under a microscope.
  • Aneuploidy: A specific type of numerical chromosomal abnormality involving an irregular number of chromosomes.
  • Chromosomal disorder: A condition resulting from a chromosomal abnormality.
Synonyms
  • Chromosomal aberration
  • Chromosomal defect
  • Chromosomal disorder
  • Cytogenetic abnormality
Antonyms
  • Euploidy: The state of having a complete set of chromosomes with no extra or missing ones.
  • Normal karyotype: A standard chromosomal complement without abnormalities.
Related Phrases
  • Carrier of a balanced translocation: An individual who has a structural chromosomal abnormality that is rearranged but contains no extra or missing genetic material, often with no symptoms.
  • Mosaicism: A condition where an individual has two or more cell lines with different chromosomal makeups.
Noun
  1. any change in the normal structure or number of chromosomes; often results in physical or mental abnormalities

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