Condition 101 About Mosaicism

What is the definition of 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

What are the alternative names for Mosaicism?

Chromosomal mosaicism; Gonadal mosaicism

What are the causes for Mosaicism?

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
  • Mosaic Klinefelter syndrome
  • Mosaic Turner syndrome

What are the symptoms for Mosaicism?

Symptoms vary and are very difficult to predict. Symptoms may not be as severe if you have both normal and abnormal cells.

What are the current treatments for Mosaicism?

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.

What is the outlook (prognosis) for Mosaicism?

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.

What are the possible complications for Mosaicism?

Complications depend on how many cells are affected by the genetic change.

When should I contact a medical professional for Mosaicism?

A diagnosis of mosaicism may cause confusion and uncertainty. A genetic counselor may help answer any questions about diagnosis and testing.

How do I prevent Mosaicism?

There is currently no known way to prevent mosaicism.


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.

Top Global Doctors For Mosaicism

Latest Advances On Mosaicism

  • Condition: PIK3CA-related overgrowth spectrum
  • Journal: Orphanet journal of rare diseases
  • Treatment Used: Alpelisib
  • Number of Patients: 12
  • Published —
The study reswearched the outcomes of using Alpelisib to treat PIK3CA-related overgrowth spectrum.
  • Condition: Prepubertal Girl with Turner Syndrome
  • Journal: Fertility and sterility
  • Treatment Used: Oocyte Cryopreservation
  • Number of Patients: 1
  • Published —
This case report discusses the first successful oocyte cryopreservation in a prepubertal girl.

Clinical Trials For Mosaicism

Clinical Trial
  • Status: Not yet recruiting
  • Phase: N/A
  • Intervention Type: Genetic
  • Participants: 5
  • Start Date: October 2020
Risk of Recurrence of de Novo Mutations: Research and Quantification of Paternal Germinal Mosaicism by the Combined Use of Genomic Tools
Clinical Trial
  • Status: Recruiting
  • Intervention Type: Genetic
  • Participants: 1500
  • Start Date: September 15, 2020
Li-Fraumeni & TP53: Understanding and Progress (LiFT UP)