Learn 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
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What are the alternative names for Mosaicism?

Chromosomal mosaicism; Gonadal mosaicism

What are the causes of 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
  • Mosaic neurofibromatosis
What are the symptoms of Mosaicism?

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

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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.

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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 of 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.

What are the latest Mosaicism Clinical Trials?
Precision Medicine for Every Child With Cancer

Summary: To improve outcomes for childhood cancer patients through the implementation of precision medicine.

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A Prospective, Observational, Multi-center, International Study to Validate a Non-invasive Preimplantation Genetic Test for Embryo Aneuploidy in the Spent Culture Media (niPGT-A).

Summary: Abnormal chromosome number, or aneuploidy, is common in human embryos. It is responsible for more than half of all miscarriages, and it is the leading cause of congenital birth defects. Besides, it has been described that aneuploidy may also affect embryo implantation. Therefore, selecting embryos that have the best chance of implanting and growing into a healthy baby is one of the most important ...

What are the Latest Advances for Mosaicism?
Next Generation Sequencing Detects Premeiotic Errors in Human Oocytes.
Identification of pathogenic variant and preimplantation genetic testing for a Chinese family affected with osteogenesis imperfecta.
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Analysis of a patient with tuberous sclerosis complex due to mosaicism TSC2 mutation.
Who are the sources who wrote this article ?

Published Date: October 27, 2020
Published By: Anna C. Edens Hurst, MD, MS, Associate 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, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Driscoll DA, Simpson JL. Genetic screening and diagnosis. In: Landon MB, Galan HL, Jauniaux ERM, et al, eds. Gabbe's Obstetrics: Normal and Problem Pregnancies. 8th ed. Philadelphia, PA: Elsevier; 2021: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.