MosaicismSymptoms, Doctors, Treatments, Advances & More
Learn About 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
Chromosomal mosaicism; Gonadal 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
Symptoms vary and are very difficult to predict. Symptoms may not be as severe if you have both normal and variant cells.
Treatment will depend on the type and severity of the disorder. You may need less intense treatment if only some of the cells are variant.
Nyu Fertililty Center-Andrology & Endo
James Grifo is a Reproductive Medicine provider practicing medicine in New York, New York. Dr. Grifo is rated as an Elite provider by MediFind in the treatment of Mosaicism. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Mosaicism, Infertility, and Ovarian Hyperstimulation Syndrome.
Boston Children's Hospital
Annapurna Poduri is a Neurologist practicing medicine in Boston, Massachusetts. Dr. Poduri is rated as an Elite provider by MediFind in the treatment of Mosaicism. She is also highly rated in 52 other conditions, according to our data. Her clinical expertise encompasses West Syndrome, Epilepsy, Polymicrogyria, and Cortical Dysplasia.
Office
Stephen Chanock is a Pediatrics provider practicing medicine in Potomac, Maryland. Dr. Chanock is rated as an Elite provider by MediFind in the treatment of Mosaicism. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Mosaicism, Menopause, Gliomatosis Cerebri, Esophageal Cancer, and Hormone Replacement Therapy (HRT).
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 variant cells have the same outlook as people with the typical form of the disease (those who have all variant cells). The typical form is also called non-mosaic.
People with a low number of variant 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.
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.
Summary: To determine how often embryos reported to be abnormal by preimplantation genetic testing result in liveborn infants. To evaluate whether the pregnancies that result from these embryos are higher risk for complications and whether the resulting babies have higher risk for health or developmental issues in the first five years after birth.
Summary: The purpose of this research study is to learn more about variants in the TP53 gene both associated with Li-Fraumeni Syndrome (LFS), a hereditary cancer risk condition, and TP53 variants found in the blood for other reasons (e.g. ACE/CHIP and mosaicism).
Published Date: November 06, 2024
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 C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Bacino CA, Lee B. Chromosome disorders. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 99.
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.
Jelin AC, Van den Veyver IB. Preconception and prenatal screening and diagnosis. In: Cohn RD, Scherer SW, Hamosh A, eds. Thompson and Thompson Genetics and Genomics in Medicine. 9th ed. Philadelphia, PA: Elsevier; 2024:chap 18.