Germline mosaicism

Germline mosaicism is a condition that occurs when an individual has some gametes that carry a genetic mutation and some that do not. This condition is not typically detectable in the individual's somatic (body) cells, but can be identified through their offspring if more than one child inherits the same genetic mutation.

Overview

Germline mosaicism is a type of genetic mosaicism specific to the cells that develop into eggs or sperm. It is a rare occurrence and is often associated with genetic disorders. The condition can lead to a situation where a genetic disorder appears to skip a generation.

Causes

Germline mosaicism is caused by a mutation that occurs in the cells that give rise to the germ cells. This mutation is not present in the somatic cells of the individual, but can be passed on to their offspring.

Implications

The implications of germline mosaicism can be significant, particularly for families with a history of genetic disorders. If a parent has germline mosaicism, they may have more than one child with the same genetic disorder, even if the parent does not show any signs of the disorder themselves.

Related Conditions

Some conditions that have been associated with germline mosaicism include Osteogenesis imperfecta, Duchenne muscular dystrophy, and Tuberous sclerosis.

See Also

• Genetic mosaicism
• Genetic mutation
• Genetic disorder

References

Germline mosaicism Resources
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