You are on page 1of 2

Chromosomal abnormalities occur when there is a defect in a chromosome or in the arrangement of the

genetic material. There are two main types: numerical aberrations and structural aberrations.

a.) Numerical Aberrations: caused by a failed chromosome division, which results in cells with an
extra (trisomy, tetrasomy) or deficient (monosomy) chromosome. For example, a condition
caused by trisomy is Down syndrome, marked by mental retardation and a low muscle tone.
This is caused by an error in cell division called nondisjunction. Prior to or at conception, a pair
of 21st chromosome in either sperm or the egg fails to separate. After the egg and sperm unite,
this extra chromosome is then replicated in every cell of the body.

a.) Structural Aberrations: caused by a loss or genetic material or a rearrangement in the location of
genetic material. This includes: deletions, duplications, inversions, ring formations and
translocations. For example, deletion occurs when a part of a chromosome is left out during
DNA replication.
https://www.ndss.org/about-down-syndrome/down-syndrome/

https://www.genome.gov/about-genomics/fact-sheets/Chromosome-Abnormalities-Fact-Sheet

You might also like