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Mosaicism





Mosaicism

Alternative Names:

Chromosomal mosaicism; Gonadal mosaicism
Treatment:

Treatment will depend on the specific type of genetic disease. Patients with mosaicism may require less intense treatment than those with the typical form of the disease (with 100% of their cells affected), because they may be more mildly affected (only some of their cells are abnormal).


Expectations (prognosis):


The outlook depends greatly on the degree of mosaicism. It is difficult to predict the effects of having two different cell lines in one person.

In general, patients with a high percentage of abnormal cells share the same prognosis as people with the typical form of that particular disease (having 100% abnormal cells).

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 their disease.


Complications:

Complications, like signs and symptoms, vary with both the type and percentage of cells affected by the genetic change.


Calling your health care provider:

The finding of mosaicism can cause confusion and uncertainty. A referral to a genetics professional may help assess the specific circumstances and provide recommendations for further testing.




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