Mosaicism

Mosaicism is a condition in which cells within the same person have a different genetic makeup. This can occur as a result of an error in cell division early in fetal development. Individuals with mosaicism may have some cells in their body that have normal chromosomes, and other cells that do not.

Causes

Mosaicism is generally caused by a mutation that occurs in a cell of the early embryo. This can result in a situation where some of the body's cells have the normal number of chromosomes, while others have a different number. The specific cause of the mutation is often unknown.

Types

There are several types of mosaicism, including Trisomy Mosaicism, Turner Mosaicism, and Chimerism. Each type is characterized by the presence of a different number of chromosomes in the body's cells.

Symptoms

The symptoms of mosaicism can vary widely, depending on the type and severity of the condition. Some individuals with mosaicism may have no symptoms at all, while others may experience developmental delays, intellectual disabilities, or physical abnormalities.

Diagnosis

Mosaicism is typically diagnosed through genetic testing. This can include karyotyping, a test that examines the number and structure of a person's chromosomes, or DNA sequencing, a test that looks at the order of the DNA bases in a gene.

Treatment

There is currently no cure for mosaicism. Treatment typically focuses on managing the symptoms of the condition and may include physical therapy, occupational therapy, or special education services.

See also

• Genetic disorder
• Chromosome abnormality

Mosaicism Resources
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