Trisomy 8q

Symptoms

What are the main symptoms of trisomy 8q?

Because trisomy 8q is rare, it is difficult to make a definite list of symptoms. In addition, many people with trisomy 8q also have extra or missing pieces of other chromosomes, making it difficult to tell which of the symptoms are associated with the extra copy of chromosome 8q.

Babies with trisomy 8q can have significant birth defects, including problems with the heart, kidneys, and skeleton, and they may be very small for their age, even before birth. There may also be distinctive facial features, including a small chin, widely spaced eyes, a large forehead, and a flat nose. Some children with trisomy 8q also have differences in their fingers, such as curved pinkies. Most children with trisomy 8q have intellectual disability.

References
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Are there earlier onset, later onset, or variant forms of trisomy 8q?

What health problems should I look for in trisomy 8q?

Are there any other diseases that look a lot like trisomy 8q?

Is there one or two characteristic “odd” or “unusual” symptom or clinical feature of trisomy 8q?

Is there variable expression or incomplete penetrance in trisomy 8q?

Are there earlier onset, later onset, or variant forms of trisomy 8q?

There are no other forms of trisomy 8q. However, people with this disorder can have different symptoms from one another. The symptoms may be more or less severe depending on how much of chromosome 8q is duplicated. Usually, having more of the chromosome duplicated will cause more serious symptoms.

References
  • Wood, E., Dowey, S., Saul, D., Cain, C., Rossiter, J., Blakemore, K., Stetten, G. (2008). Prenatal diagnosis of mosaic trisomy 8q studied by ultrasound, cytogenetics, and array-CGH. Am J Med Genet A. 146A(6):764-9. http://www.ncbi.nlm.nih.gov/pubmed/18241063
What health problems should I look for in trisomy 8q?

Individuals with trisomy 8q are often very small for their age, even before birth. People with this condition may have heart, kidney, or skeletal problems. People with this disorder also have intellectual disability, so they may need special care. They are likely to reach motor milestones, such as walking, later than their peers. There may be differences in their facial features (including a small chin, widely spaced eyes, a large forehead, and a flat nose) or with their fingers/toes, such as curved pinkies.

References
Are there any other diseases that look a lot like trisomy 8q?

There are many genetic diseases with similar symptoms to trisomy 8q, including other trisomies. Trisomy 8q should be confirmed with genetic testing in order to diagnose the disorder.

Is there one or two characteristic “odd” or “unusual” symptom or clinical feature of trisomy 8q?

There is not one symptom that is characteristic of trisomy 8q. Usually, people with this disorder have a few traits of the disorder, not just one. Children with this disorder can have birth defects, distinctive facial features, intellectual disability, and developmental delay. The features of trisomy 8q are not specific to this condition- they can be seen in other disorders.

References
  • Schinzel, A. (1977) Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome. Hum Genet. 37(1):17-26. http://www.ncbi.nlm.nih.gov/pubmed/881192
Is there variable expression or incomplete penetrance in trisomy 8q?

There is complete penetrance in trisomy 8q. This means that everyone who has an extra chromosome 8q in their cells has the disorder. Some people who have a smaller amount of chromosome 8q duplicated may have milder symptoms.

References

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