Trisomy 20p

Symptoms

What are the main symptoms of trisomy 20p?

Newborns with trisomy 20p can have birth defects. These include problems with the skeleton, such as a curved spine, fused vertebrae, problems with the fingers and toes, and dislocated hips. Heart defects (abnormal structure of the heart) and kidney problems can also be present. People with trisomy 20p usually have specific facial features. These include arched eyebrows, upward slanting eyes, large ears, abnormal teeth, and large nostrils. The head can be flattened at the back. People with trisomy 20p usually have straight, thick hair. They can also have osteoporosis, or weakened bones.

As children with trisomy 20p grow, they usually reach their milestones, such as walking, later than other children. They can have trouble making certain sounds. They may have speech delay, such as saying words later than their peers. People with trisomy 20p usually have mild to moderate intellectual disability. They may need to be in special classes at school. Children with trisomy 20p usually grow at a normal rate. They will not be significantly shorter or taller than their peers.

The symptoms of trisomy 20p may be more severe or less severe. This depends on how much of chromosome 20p is duplicated. Usually, having more of the chromosome will result in more serious symptoms.

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Are there earlier onset, later onset, or variant forms of trisomy 20p?

What health problems should I look for in trisomy 20p?

Any other diseases that look a lot like trisomy 20p?

Is there one or two characteristic “odd” or “unusual” symptom or clinical feature of trisomy 20p?

Is there variable expression or incomplete penetrance in trisomy 20p?

Are there earlier onset, later onset, or variant forms of trisomy 20p?

There are no other forms of trisomy 20p. However, people with this disorder can have different symptoms from one another. The symptoms may be more or less severe. This depends on how much of chromosome 20p is duplicated. Usually, having more of the chromosome will result in more serious symptoms.

What health problems should I look for in trisomy 20p?

People with trisomy 20p can have severe symptoms at birth that need treatment. For example, a child with a heart problem may need surgery. Later in life, children may need treatment for a curved spine or abnormal teeth. People with trisomy 20p also have mild to moderate intellectual disability. They may need special care in school. They may also reach motor milestones, such as walking, later than their peers. Children with trisomy 20p can have trouble making certain sounds. They may experience speech delay, such as saying words later than their peers.

Any other diseases that look a lot like trisomy 20p?

There are many genetic diseases with similar symptoms to trisomy 20p. These include other trisomies (other conditions that have three copies of a chromosome instead of the usual two copies). Trisomy 20p should be confirmed with genetic testing in order to diagnose the disorder.

You can discuss genetic testing with a genetic counselor or geneticist. Genetic counselors can be found using the “Find a Genetic Counselor” tool on the National Society of Genetic Counselors’ website.

References
Is there one or two characteristic “odd” or “unusual” symptom or clinical feature of trisomy 20p?

There is not one symptom that is characteristic of trisomy 20p. Usually, people with trisomy 20p have a few features of the condition, not just one. Children with trisomy 20p can have birth defects, distinct facial features, intellectual disability, and developmental delay.

Is there variable expression or incomplete penetrance in trisomy 20p?

There is complete penetrance in trisomy 20p. This means that everyone who has an extra copy of chromosome 20p in their cells has symptoms of the condition.

However, there is variable expression. This means that people with trisomy 20p can have different symptoms from one another. Usually, having a larger piece of chromosome 20p will result in more serious symptoms.

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