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Mosaicism
Chromosomal mosaicism; Gonadal mosaicism
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
Causes
Mosaicism is caused by an error in cell division very early in the development of the unborn baby. Examples of mosaicism include:
-
Mosaic
Down syndrome
Down syndrome
Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46.
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Mosaic
Klinefelter syndrome
Klinefelter syndrome
Klinefelter syndrome is a genetic condition that occurs in males when they have an extra X chromosome.
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Mosaic
Turner syndrome
Turner syndrome
Turner syndrome is a rare genetic condition in which a female does not have the usual pair of 2 X chromosomes.
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Symptoms
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
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.
Outlook (Prognosis)
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 two different cell lines in one 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.
Possible Complications
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.
Prevention
There is currently no known way to prevent mosaicism.
References
Driscoll DA, Simpson JL, Holzgreve W, Otaño L. Genetic screening and prenatal genetic diagnosis. In: Gabbe SG, Niebyl JR, Simpson JL, et al, eds. Obstetrics: Normal and Problem Pregnancies . 7th ed. Philadelphia, PA: Elsevier; 2017:chap 10.
Nussbaum RL, McInnes RR, Willard HF. Prenatal diagnosis and screening. In: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson and Thompson Genetics in Medicine . 8th ed. Philadelphia, PA: Elsevier; 2016:chap 17.
Review Date: 10/30/2016
Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
