Trisomy 8q

Causes

What gene change or mutation causes trisomy 8q?

In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. These are the instruction manuals for the body. Twenty-two of these pairs, called autosomes, are the same in both males and females. The 23rd pair, the sex chromosomes, differs between males and females(XX for females and XY for males. 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 called “p”. In trisomy 8q, the cells of the body have an extra copy of all or part of the long arm of chromosome 8. Cells of the body are called “trisomic” when they have an extra copy of chromosome 8q. Sometimes, only some cells of the body have an extra 8q and others do not. This is called “mosaic”.

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What happens because of that gene change in trisomy 8q?

Does anything make trisomy 8q worse?

Is there a predisposition or a cause for trisomy 8q?

What happens because of that gene change in trisomy 8q?

Scientists and doctors are not sure exactly how having an extra copy of chromosome 8q causes these symptoms. The extra set of instructions may interfere with normal development. In trisomy 8q, there is debate about which part of chromosome 8q is the major cause of the symptoms.

References
Does anything make trisomy 8q worse?

There is nothing that makes the symptoms of trisomy 8q worse.

References
Is there a predisposition or a cause for trisomy 8q?

Having an extra copy of chromosome 8q in the cells of the body causes trisomy 8q. No other factor is necessary in order to show the signs or symptoms of the condition.

If a person has a rearrangement of the chromosomes without having any extra or missing pieces (called a balanced translocation) that involves chromosome 8q, they are at increased risk to have a child with trisomy 8q even though they don't have any symptoms themselves.

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