Definition of "Chromosomal abnormality"

Last modified: less than a minute



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

Patient information

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.

Types
  • 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
Pathophysiology
  • 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
Dx
  • 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

Find a practitioner

Practitioner count: 0
Sponsor a disease. And see how your proceeds help.
$1
Express interest
$10
Write text
$40
Write FAQ
$100
Snap photos
$400
Record audio
$1k
Produce video
$4k
Interview experts



Definition of Chromosomal abnormality | Autoprac


RSS feeds: Most recent Most viewed