Trisomy 4p

Causes

What gene change/mutation causes trisomy 4p?

Chromosomes usually come in pairs. In each pair, one copy comes from the mother and one copy comes from the father. Each pair is numbered 1 through 22 except for the sex chromosomes, which are labeled by “X” and “Y.” Females have two X chromosomes. Males have one X and Y.

Each chromosome has a center with two arms coming out of it. There is a long arm and a short arm. The long arm is called the “q” arm. The short arm is called the “p” arm.

In trisomy 4p, there is an extra copy of the short "p" arm of chromosome 4 in the body's cells. This is called a "trisomy" because there are three copies instead of the usual two copies of chromosome 4p.

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What happens because of the gene change in trisomy 4p?

Does anything make trisomy 4p worse?

Is this a predisposition or a cause for trisomy 4p?

What happens because of the gene change in trisomy 4p?

An extra copy of chromosome 4p can cause a range of symptoms. These include specific facial features, trouble breathing and eating, abnormal bones, and problems with the hands and feet. Children with trisomy 4p can be born with birth defects, such as problems with the heart, kidney, brain, and genitals. They also have intellectual disability and need to be in special classes. Children with trisomy 4p are usually small at birth and stay smaller than other people their age. The symptoms may be more or less severe. This depends on how much of chromosome 4p is added. Usually, having more of the chromosome will result in more serious symptoms.

Scientists and doctors are not exactly sure how having an extra chromosome causes these symptoms. The extra set of instructions might interfere with normal development.

Does anything make trisomy 4p worse?

There is nothing that makes the symptoms of trisomy 4p worse. However, early help and therapy (also called early intervention) can help children with trisomy 4p. For example, children may need speech and physical therapy. Sometimes, surgery is also performed to correct the limb abnormalities.

Is this a predisposition or a cause for trisomy 4p?

Having an extra copy of chromosome 4p in the cells of the body causes trisomy 4p. No other factor is necessary in order to show symptoms.

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