Chromosome disorder
Chromosome disorder refers to a condition that is caused by an alteration in the number or genetic structure of chromosomes. Most chromosome disorders are caused by errors that occur when an egg or sperm cell develops.
Types of Chromosome Disorders[edit | edit source]
There are two main types of chromosome disorders: numerical disorders and structural disorders.
Numerical Disorders[edit | edit source]
Numerical disorders occur when there is a change in the number of chromosomes. The most common numerical disorders include Down syndrome, Patau syndrome, and Edwards syndrome. These disorders are caused by the presence of an extra chromosome in the cells.
Structural Disorders[edit | edit source]
Structural disorders occur when the structure of a chromosome is altered. This can happen through deletions, duplications, inversions, and translocations. Examples of structural disorders include Cri du chat syndrome, Prader-Willi syndrome, and Angelman syndrome.
Causes of Chromosome Disorders[edit | edit source]
Chromosome disorders are typically caused by errors in cell division. These errors can occur in the formation of egg or sperm cells, or they can occur after fertilization. The exact cause of these errors is often unknown, but age, exposure to certain chemicals, and a history of chromosome disorders in the family can increase the risk.
Diagnosis and Treatment[edit | edit source]
Chromosome disorders can often be diagnosed before birth through prenatal testing. After birth, a diagnosis can be confirmed through a blood test. Treatment for chromosome disorders typically involves managing the symptoms and complications of the disorder. This can include physical therapy, speech therapy, and educational support.
See Also[edit | edit source]
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Contributors: Prab R. Tumpati, MD