Types of Genetic Disorders

Chromosome Disorders

Chromosome disorders occur when a whole chromosome is missing, extra, or rearranged. These changes often lead to serious developmental and health problems.

Examples include:

  • Down syndrome – caused by having three copies of chromosome 21.
  • Turner syndrome – affects females when one of the X chromosomes is missing or altered (NHGRI, 2024).

Such conditions are often identified through prenatal screening or karyotyping, which allows doctors to examine chromosomes.