Mosaic (genetics)

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Mosaic (genetics)

Mosaic (genetics) refers to the presence of two or more populations of cells with different genotypes in one individual, who has developed from a single fertilized egg. Mosaicism has been reported in many different tissues but is particularly prevalent in the skin, blood, and nervous system.

Causes[edit | edit source]

Mosaicism can result from a mutation during development which is propagated to only a subset of the adult cells. Some common causes include mutations in individual cells, a phenomenon known as somatic mutation, and errors in mitosis.

Types of Mosaicism[edit | edit source]

There are several types of mosaicism, including:

  • Gonadal mosaicism: This occurs when some of the cells in the reproductive cells have a different genetic makeup from the rest of the body. This can result in a child inheriting a genetic condition that neither parent has.
  • Somatic mosaicism: This occurs when the mutation happens after fertilization during the early stages of embryonic development. Some cells have the mutation, and some do not.

Diagnosis[edit | edit source]

Diagnosis of mosaicism can be challenging due to the random distribution of affected cells in different tissues. It often involves genetic testing, including DNA sequencing and karyotyping.

Treatment[edit | edit source]

Treatment for mosaicism depends on the specific genetic changes and their effects on the body. It often involves managing the symptoms and complications of the condition.

See also[edit | edit source]

Resources[edit source]

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Contributors: Prab R. Tumpati, MD