Mosaic trisomy 8

Symptoms

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

There are no other forms of mosaic trisomy 8. However, people with this disorder can have different symptoms from each other because they may have a different number of trisomic cells than one another, and these trisomic cells may be found in different parts of the body.

Speak to a genetic counselor or a medical geneticist to learn more about trisomy 8.

References
  • https://rarediseases.info.nih.gov/gard/5359/mosaic-trisomy-8/resources/9
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What health problems should I look for in mosaic trisomy 8?

Any other diseases that look like mosaic trisomy 8?

Is there one or two characteristic ?odd? or ?unusual? symptom or clinical feature associated with mosaic trisomy 8?

Is there complete penetrance with mosaic trisomy 8?

What are the main symptoms of mosaic trisomy 8?

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

The symptoms of mosaic trisomy 8 may be severe. Children can have concerns for kidney and urinary problems, heart defects, cleft palate, stiff or twisted joints, curved spine (scoliosis), genital abnormalities, seizures, tongue tied, increased infections, and a small increased risk for leukemia.

When mosaic trisomy 8 is found before a baby is born, through amniocentesis or chorionic villus sampling, it can be very difficult to predict what health problems will occur. If the test finding mosaic trisomy 8 is a chorionic villus sampling, then there is a chance that all the trisomy 8 cells are only in the placenta and not in the baby (confined placenta mosaicism). The risk for confined placental mosaicism is approximately 1%. In this case, an amniocentesis may be suggested to look at the baby's cells directly. Medical geneticists and genetic counselors can be helpful in discussing the possible outcomes based on this information.

People with many cells that have the extra chromosome 8 may be very sick and may die early in life. However, individuals with fewer cells that have the extra chromosome 8 may have less health issues. The severity of symptoms can be difficult to predict based on the amount of mosaicism.

References
  • http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96061
Any other diseases that look like mosaic trisomy 8?

Diseases with similar symptoms include Fong syndrome, arthrogryposis and otopalato-digital syndrome. Mosaic trisomy 8 should be confirmed with genetic testing in order to diagnose this disorder. Speak to a genetic counselor or a medical geneticist if you are concerned about a risk for mosaic trisomy 8.

References
  • http://www.ncbi.nlm.nih.gov/pubmed/1157389
Is there one or two characteristic ?odd? or ?unusual? symptom or clinical feature associated with mosaic trisomy 8?

A common symptom of mosaic trisomy 8 is agenesis of the corpus callosum. This means that the tissue that connects the left and right parts of the brain has not developed. Agenesis of the corpus callosum may also be isolated or associated with other genetic conditions.

Speak to a medical geneticist if you have questions about agenesis of the corpus callosum and mosaic trisomy 8.

References
  • http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96061
Is there complete penetrance with mosaic trisomy 8?

There is usually complete penetrance with mosaic trisomy 8. This means that almost everyone who has an extra chromosome 8 in some of their cells has some symptoms of the condition. It is possible that people with mosaic trisomy 8 will have different features from one another. This is because there is variable expression, which means that people with mosaic trisomy 8 can show different symptoms than other people with the same diagnosis.

Additionally, when mosaic trisomy 8 is found before a baby is born, through amniocentesis or chorionic villus sampling, it can be very difficult to predict how severe health problems will be. If the test finding mosaic trisomy 8 is a chorionic villus sampling, then there is a chance that all the trisomy 8 cells are only in the placenta and not in the baby (confined placenta mosaicism). The risk for confined placental mosaicism is approximately 1%. In this case, an amniocentesis may be suggested to look at the baby's cells directly.

Speak to a genetic counselor or a medical geneticist to learn more about these possible outcomes.

References
  • http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96061
What are the main symptoms of mosaic trisomy 8?

The symptoms of mosaic trisomy 8 can vary between people. Symptoms may include cleft palate, learning difficulties, speech concerns, developmental delay hearing loss, vision changes, and sleep concerns. People may have specific facial features including a prominent forehead, wide-set eyes, deeply set eyes, a broad upturned nose, everted lower lips, and ear anomalies. The tissue that connects the two sides of the brain, called the corpus callosum, is often absent in people with mosaic trisomy 8. People with this disorder can also have stiff or twisted joints, curved backbone (scoliosis), heart defects, kidney or urinary problems, genital changes, tongue issues, increased infections, and a small increased risk for leukemia. Everyone with mosaic trisomy 8 can have a different set of symptoms because they may have a different number of trisomic cells, and these trisomic cells may be found in different parts of the body.

Speak to a genetic counselor or a medical geneticist to learn more about mosaic trisomy 8.

References
  • https://rarediseases.info.nih.gov/gard/5359/mosaic-trisomy-8/resources/9

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