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Mosaicism

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Alternative Names:
Chromosomal mosaicism; Gonadal mosaicism
Treatment:
The treatment is the same as for the typical form of the genetic disease (wherein 100% of cells have the genetic change). However, patients with mosaicism may require less intense treatment because they may be more mildly affected (some of their cells are normal).
Expectations (prognosis):

The outlook is heavily influenced by the degree of mosaicism. In general, patients with a high percentage of abnormal cells in their blood share the same prognosis as people with the typical form (100% abnormal cells) of the disease.

Patients with a low percentage of abnormal cells may be quite mildly affected. In fact, they may only discover that they have mosaicism after giving birth to a child who has the typical (non-mosaic) form of a genetic disease.

Complications:
Complications, like signs and symptoms, vary with both the type and percentage of cells affected by the genetic change. One complication of gonadal mosaicism is that it becomes very difficult to give specific statistical probabilities of a child being affected by a genetic disease because the percentage of affected sex cells is unknown.
Calling your health care provider:

Mosaicism is complicated, and a call to a genetic counselor and your health care provider is important under the following circumstances:

  • When a genetic disease appears in a family with no prior known family history of that disease.
  • When a person has signs/symptoms of a genetic disease that are milder, or affect only one part of the body, than is typical of that disease.
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