Trisomy 1q

Causes

What gene changes or mutations that causes trisomy 1q?

In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty-two of these pairs, called autosomes, look the same in both males and females. The 23rd pair, the sex chromosomes, differs between males and females and determine our gender. Each of these chromosomes has 2 parts, called the long arm and the short arm. The long arm is referred to as "q" and the short arm is abbreviated "p". Both arms of all chromosomes are further divided into light and dark colored bands that are labeled by numbers. The further away from the centromere (connecting part between p and q arm) the higher the number. The labeled bands help everyone stay consistent in discussed specific parts of the chromosome.

In trisomy 1q, some or all of the cells in the body have extra parts of the long arm of chromosome 1. Cells of the body are called "trisomic" when they have an extra chromosome 1q. When only some cells of the body have an extra 1q and others do not. This is called "mosaic".

An extra chromosome 1q can cause a range of health and developmental problems. The severity of problems depend on how much and what parts of the chromosome are duplicated. The duplicated parts of the chromosomes reflect different genes that have been duplicated. A gene is a section of our DNA that has a specific instruction manual on how to make a protein that our body needs to function. Our body usually has two copies of every gene. If we have a third copy (because it is in part of the duplicated information), that can negatively affect the way the body functions. This can cause many potential problems including developmental delays, birth defects, changes in physical appearance or risks for other health problems down the road.

It is not completely understood why the duplication of genetic material in Chromosome 1q causes the specific problems that is does.

References
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What happens because of the extra DNA in trisomy 1q?

Is this a predisposition or a cause for trisomy 1q?

What happens because of the extra DNA in trisomy 1q?

An extra chromosome 1q can cause a range of health and developmental problems. The severity of problems depend on how much and what parts of the chromosome are duplicated. The duplicated parts of the chromosomes reflect different genes that have been duplicated. A gene is a section of our DNA that has a specific instruction manual on how to make a protein that our body needs to function. Our body usually has two copies of every gene. If we have a third copy (because it is in part of the duplicated information), that can negatively affect the way the body functions. This can cause many potential problems including developmental delays, birth defects, changes in physical appearance or risks for other health problems down the road.

It is not completely understood why the duplication of genetic material in Chromosome 1q causes the specific problems that is does.

References
Is this a predisposition or a cause for trisomy 1q?

There is not a predisposition to have trisomy 1q (or 1q duplication. Having an extra DNA in the q arm of chromosome 1 in the cells of the body the features related to the condition. No other factor is necessary in order to show the symptoms.

References

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