Mosaicism is a condition in which cells within the same person have a different genetic makeup. This condition can affect any type of cell, including:
- Blood cells
- Egg and sperm cells
- Skin cells
Symptoms vary and are very difficult to predict. Symptoms may not be as severe if you have both normal and abnormal cells.
Exams and Tests
Genetic testing can diagnose mosaicism.
Tests will likely need to be repeated to confirm the results, and to help determine the type and severity of the disorder.
Treatment will depend on the type and severity of the disorder. You may need less intense treatment if only some of the cells are abnormal.
How well you do depends on which organs and tissues are affected (for example, the brain or heart). It is difficult to predict the effects of having 2 different cell lines in 1 person.
In general, people with a high number of abnormal cells have the same outlook as people with the typical form of the disease (those who have all abnormal cells). The typical form is also called non-mosaic.
People with a low number of abnormal cells may be only mildly affected. They may not discover that they have mosaicism until they give birth to a child who has the non-mosaic form of the disease. Sometimes a child born with the non-mosaic form will not survive, but a child born with mosaicism will.
Complications depend on how many cells are affected by the genetic change.
When to Contact a Medical Professional
A diagnosis of mosaicism may cause confusion and uncertainty. A genetic counselor may help answer any questions about diagnosis and testing.
There is currently no known way to prevent mosaicism.
Chromosomal mosaicism; Gonadal mosaicism
Bacino CA and Lee B. Cytogenetics. In: Kliegman RM, Stanton BF, St. Geme J, Schor N, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 76.
Stankiewicz P, Lupski JR. Gene, genomic, and chromosomal disorders. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 40.
Update Date 11/25/2014
Updated by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.