Definition of "Chromosomal abnormality"

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Chromosomal abnormality (aka chromosomal anomaly, aberration, or mutation), is an abnormality of chromosomal DNA. The most common chromosomal abnormalities include:

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What's the difference between a chromosomal abnormality and a genetic disorder?
Genetic disorders are any mutations that occur in one of the 25,000 genes which can be located on the 46 chromosomes, found in each cell of the human body. Usually when we say "genetic disorder", we mean a "single-gene defect". That is, only 1 of the 25,000 genes are affected. A chromosomal abnormality on the other hand, affect an entire chromosome, or a substantial number of genes that make it up.

  • Numerical anomalies, as in an atypical number of chromosomes
  • Structural anomalies, in one or more chromosomes, including:
    • Missing portion of chromosomal DNA
    • Extra portion of chromosomal DNA
    • Irregular portion of chromosomal DNA
  • Usually occur where there is an error in cell division, following meiosis or mitosis
  • When the chromosome's structure is altered, it can be due to:
    • Deletion
    • Duplication
    • Translocation, including:
      • Reciprocal translocation
      • Robertsonian translocation
    • Inversion
    • Insertions
    • Rings
    • Isochromosome
  • Karyotype (i.e. full set of chromosomes from a Pt) can be compared to a "normal" karyotype via genetic testing, to detect or confirm chromosome anomalies
See also

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Definition of Chromosomal abnormality | Autoprac

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