Written by the Fiveable Content Team • Last updated September 2025
Verified for the 2026 exam
Verified for the 2026 exam•Written by the Fiveable Content Team • Last updated September 2025
Definition
Chromosomal disorders are genetic conditions caused by changes or abnormalities in chromosomes. These changes can involve missing or additional genetic material, altered structures, or rearrangements.
Related terms
Karyotype: A karyotype is a visual representation of an individual's chromosomes arranged according to size and structure. It helps identify chromosomal abnormalities associated with disorders.
Genetic mutation: Genetic mutations are permanent changes in DNA that can alter gene functions or protein production. Some chromosomal disorders are caused by specific mutations.
Structural abnormalities: Chromosomal disorders can involve structural abnormalities, such as deletions (loss of genetic material), duplications (extra copies of genetic material), inversions (reversal of chromosome segment), or translocations (exchange of genetic material between chromosomes).