Germline mosaicism, also called gonadal mosaicism, is a type of genetic mosaicism where more than one set of genetic information is found specifically within the gamete cells; conversely, somatic mosaicism is a type of genetic mosaicism found in somatic cells.

Gonadal mosaicism occurs when some of the sperm cells in the testes or some of the egg cells in the ovaries carry a pathogenic variant that is not found in other cells of the body. This means that a parent may not develop a genetic condition but could pass it on to one or more of their children.

45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, [1] is a mutation of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome.

Germline or gonadal mosaicism is a particular form of mosaicism wherein some gametes —i.e., sperm or oocytes —carry a mutation, but the rest are normal. [11][12] The cause is usually a mutation that occurred in an early stem cell that gave rise to all or part of the gametes.

Nov 18, 2024 · Gonadal (Germline) Mosaicism. Gonadal mosaicism occurs when mutations arise in the reproductive cells—sperm or eggs. Unlike somatic mosaicism, gonadal mosaicism can be passed to offspring. This means an individual with no symptoms of a genetic condition could still have children with that condition if the mutation is present in their germline ...

May 25, 2022 · -Etiology: The cause of gonadal mosaicism is either a mutation that occurs after conception, or epigenetic regulation that alters DNA methylation. -Genes involved: None. -Pathogenesis: The sequence of events that lead to gonadal mosaicism may be autosomal or germline mosaicism.

Jan 29, 2005 · Yet another type of mosaicism, called gonadal mosaicism, happens when a mutation occurs in a developing fetus’ egg or sperm cells. A male with this condition may not show any signs of a genetic disease himself, but will carry some sperm that have potentially harmful mutations.

Mosaicism is when a person has 2 or more genetically different sets of cells in his or her body. Chromosomes are stick-shaped structures in the middle of each cell in the body. Each cell has 46 chromosomes grouped in 23 pairs.

But several studies have reported women having a second affected child even after negative carrier testing. This is due to “germline mosaicism,” which means that some of her egg cells (her “germline”) carry the Duchenne gene mutation whereas other egg cells do not.

Mar 31, 2025 · We focused on identifying germline mosaicism, where a fraction of the child’s mutation is detectable in parental blood or sperm. ... Wilkie AOM, Goriely A. Gonadal mosaicism and non-invasive prenatal diagnosis for “reassurance” in sporadic paternal age effect (PAE) disorders. Prenat Diagn. 2017;37(9):946–8. pmid:28686291 . View Article