Trisomy 20p


How is trisomy 20p inherited?

Trisomy 20p is often inherited. In those cases, the parent has a translocation or an inversion. This means that the parent's short arm of chromosome 20 is found in a different place than expected. The parent usually has all of the chromosome 20p information in the right amount, just in a different place. They usually do not have trisomy 20p. They do not have features or symptoms of trisomy 20p. However, since their chromosome 20p material is in a different place than expected, their children are at risk to have trisomy 20p.

A person can also have trisomy 20p because of a new change in their genetic material. This is called “de novo” and is the result of a change in either the sperm or egg. The change causes the cells to have extra chromosome 20p material.

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What does it mean to have inherited a “variant” in the gene for trisomy 20p?

Are there forms of trisomy 20p that aren’t genetic?

What does it mean to have inherited a “variant” in the gene for trisomy 20p?

Genes are small parts of the larger chromosome. Chromosomes can be compared to books, and genes are the sentences in the book. There is not a specific gene or sentence that causes trisomy 20p. Rather, people with trisomy 20p have an extra short arm of chromosome 20. This is like having an additional book added to the body’s instructions, which is much different than having a change in a sentence in the book. Therefore, people with trisomy 20p do not have variants in a specific gene.

Are there forms of trisomy 20p that aren’t genetic?

All forms of trisomy 20p are genetic. Everyone with trisomy 20p has extra chromosome 20p material in the cells of their body.

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