Mosaic trisomy 8

Children with mosaic trisomy 8 can attend school. If they are experiencing learning difficulties, they may benefit from special classes and an Individualized Education Plan (IEP) that help them reach their full potential. They many also benefit from additional therapies including physical, speech, and occupational therapy.

People with mosaic trisomy 8 have an extra chromosome 8 in some cells of the body, but not all cells of the body. If a person with mosaic trisomy 8 passes on the extra chromosome, the child may have the extra chromosome 8 in every cell of the body, called full or complete trisomy 8. Babies with full trisomy 8 do not typically survive and will miscarry during a pregnancy.

Mosaic trisomy 8 is typically new in the person who is diagnosed with it, meaning that neither parent has mosaic trisomy 8. If this is the case, it is most likely not necessary to test other family members. However, it may be necessary to test the parents to see if they have a balanced chromosome rearrangement called a translocation. A balanced translocation makes it more likely for their children to have this disorder. Check with your healthcare team if you have additional questions about who in your family should be tested.

Speak to a genetic counselor or a medical geneticist to review the risk of recurrence in your family.

To find other people with mosaic trisomy 8 start by checking with your healthcare team for resources in your area. You can also join an online support group. The link for a mosaic trisomy 8 support group through Facebook is below:
[link url="” target=”_blank”>https://www.facebook.com/groups/Trisomy8/

There are also support groups for people with different types of trisomies. One such group is called Trisomy Online and can be found at [link url="” target=”_blank”>http://www.trisomyonline.org/families.htm. Other helpful groups are:

People with mosaic trisomy 8 should follow with a medical genetics team. These healthcare providers specialize in genetic disorders. Geneticists may refer people with mosaic trisomy 8 to specialists depending on their individual symptoms. For example, newborns may need to see a heart surgeon if they need to have a heart problem fixed. If a person with mosaic trisomy 8 has scoliosis, they may want to see an orthopedic doctor who specializes in the bones. If they have agenesis of the corpus callosum (ACC), where the tissue that connects the left and right parts of the brain does not develop, it may be necessary to work with a neurologist.

Find a medical geneticist near you to learn more about management for mosaic trisomy 8.

There is not a common abbreviation for mosaic trisomy 8. Sometimes it is abbreviated as T8M or Mosaic Ts8.

Due to the variability in symptoms that is seen for people with mosaic trisomy 8 It is hard to predict the exact life expectancy. Most often infants with many cells that have the extra chromosome 8 are very sick and many die in early childhood. However, individuals with less cells that have the extra chromosome 8 may have less health issues and often live longer. Rarely, individuals with a very small amount of extra chromosome 8 cells found on prenatal testing may have very few to no medical issues.

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 very helpful in discussing the possible outcomes based on this information.

The average IQ in individuals with mosaic trisomy 8 is 50-75. People in this range can go to school and can have jobs as adults. Sometimes, they may need extra assistance. However, the range of intellectual disabilities in people with mosaic trisomy 8 can vary widely from no intellectual disability to severe.

We each have 46 chromosomes that are separated into 23 pairs. One copy in each pair comes from our mother and one copy in each pair comes from our father. The first 22 pairs of chromosomes are numbered 1 through 22 and are arranged from the largest chromosomes to the smallest chromosomes. The last pair of chromosomes determines our gender. Women have two X chromosomes while men have one X chromosome and one Y chromosome. In complete trisomy 8, all of the cells of the body have an extra chromosome 8, which means that there are 47 chromosomes in all the cells instead of 46. A baby with complete trisomy 8 will usually not survive to birth. In mosaic trisomy 8, some of the cells of the body have an extra chromosome 8, which means that there are 47 chromosomes in those cells and other cells in the body have the typical 46 chromosomes. The cells with the extra chromosome 8 are called "trisomic" as they have three copies of the 8th chromosome.
Having mosaic trisomy 8 causes a range of symptoms. Specific facial appearance can include a prominent forehead, wide-set eyes, deeply set eyes, a broad upturned nose, everted lower lips, and ear anomalies, Individuals may also have a cleft palate, learning difficulties, speech concerns, developmental delay, hearing loss, vision changes, and sleep concerns. 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 problems with stiff or twisted joints, curved spine (scoliosis), abnormal bones, eyes problems ,heart defects, kidneys or urinary problems, genital changes, tongue issues, 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 difficult to predict what health problems will occur. When mosaic trisomy 8 is found by chorionic villus sampling there is a chance that the cells with trisomy 8 are only found in the placenta and not in the baby (confined placenta mosaicism). The risk for confined placental mosacism is approximately 1%. In this case, an amniocentesis may be suggested to look at the baby’s cells directly.
When the majority of a baby’s cells have trisomy 8 they may be sick and pass away early in life. Individuals with fewer cells that have the extra chromosome 8 may have less health issues. However it can be difficult to predict severity of symptoms based on the amount of cells with trisomy 8 since we are unable to test all cells in the body to determine which cells have 47 chromosomes and which cells have the typical 46 chromosomes.

Speak to a genetic counselor or a medical geneticist if you have questions about 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.

It is unclear exactly why having an extra chromosome can cause the symptoms associated with mosaic trisomy 8. It is thought that the extra set of instructions interferes with development. The word "mosaic" means that only some cells have the extra chromosome and others do not. Mosaic trisomy 8 can causes a range of symptoms, including specific facial features, cleft palate, intellectual disabilities and changes in the brain. Everyone with mosaic trisomy 8 can have a different set of symptoms because they have a different number of trisomic cells, and they may be in different parts of the body.

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

We each have 46 chromosomes that are separated into 23 pairs. One copy in each pair comes from our mother and one copy in each pair comes from our father. The first 22 pairs of chromosomes are numbered 1 through 22 and are arranged from the largest chromosomes to the smallest chromosomes. The last pair of chromosomes determines our gender. Women have two X chromosomes while men have one X chromosome and one Y chromosome. In mosaic trisomy 8, some of the cells of the body have an extra chromosome 8, which means that there are 47 chromosomes in those cells and other cells in the body have the typical 46 chromosomes. The cells with the extra chromosome 8 are called "trisomic" as they have three copies of the 8th chromosome. This extra chromosome in some of the cells causes the symptoms of mosaic trisomy 8.

Speak to a genetic counselor or a medical geneticist to learn more about the cause 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.

Having an extra copy of chromosome 8 in some, but not all, cells of the body causes mosaic trisomy 8. No other factor is necessary in order to show the symptoms.

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.

Trisomy 8 mosaicism is not included in the newborn screen that is done on all new babies. However, if mosaic trisomy 8 is suspected, the medical team can order a chromosome analysis or karyotype. This is a picture of the chromosomes, which are packages of genetic information. Mosaic trisomy 8 may also be detected by another test called a chromosomal microarray. Chromosome microarray is able to detect smaller additions or deletions of genetic information that can be seen with a standard karyotype. Low levels of trisomy 8 mosaicism may be missed by a chromosome microarray.

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

There are two tests that can be used to determine if someone has mosaic trisomy 8. One test is called a chromosomal analysis or karyotype which shows a picture of a person’s chromosomes. Chromosome are the packages of our genetic information. The other test is called a chromosome microarray. Chromosome microarray is able to detect smaller additions or deletions of genetic information that can be seen with a standard karyotype. Low levels of trisomy 8 mosaicism may be missed by a chromosome microarray. However, if mosaic trisomy 8 is diagnosed, doctors may perform other tests to look for additional symptoms. For example, they may recommend ultrasound of the brain, heart, and kidneys.

Speak to a genetic counselor or a medical geneticist to learn more about genetic testing for 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.

There is not current research in mosaic trisomy 8 In January 2016. For the most recent studies, go to[link url="” target=”_blank”> clinicaltrials.gov and search for mosaic trisomy 8.

Mosaic trisomy 8 cannot be cured. However, there are treatments and supportive therapies that can be offered for the individual symptoms of mosaic trisomy 8. For example, surgery may be needed at birth to repair a cleft palate or a heart problem. If a person with mosaic trisomy 8 has stiff joints, they may benefit from physical and occupational therapy.

Speak to a medical geneticist to learn more about the management of mosaic trisomy 8.

It is important to be knowledgeable about your/ your children’s individual symptoms. Your doctor should know that people with mosaic trisomy 8 are at greater risk for certain types of cancer, including leukemia.

If neither parent has mosaic trisomy 8, then the chances are low that another child will have the same disorder. Usually, mosaic trisomy 8 is caused by a chromosomal abnormality that happened for the first time in the child. This means that neither parent has the extra chromosome 8, and the chances are low that the same change will happen in another pregnancy. If the mosaic trisomy 8 is cause by a balanced chromosome translocation in a parent there is a higher risk that a family may have another child with mosaic trisomy 8.

Speak to a genetic counselor or a medical geneticist to learn more about your personalized risk.

Chromosomal mosaicism is when some cells of the body have an extra or missing chromosome while other cells in the body have the typical 46 chromosomes. This may happen because of a change or mistake that occurs in either the sperm or egg at conception. This change causes the cells to have an extra chromosome. Usually, the change is new to the child, meaning that neither parent has mosaic trisomy 8. There are some instances where one of the parents has a chromosome rearrangement called a translocation, which increases the risk to have a child with mosaic trisomy 8.

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

If both parents have normal chromosomes with no rearrangements or extra chromsomes, then the chances are low that another child will have the same disorder. Usually, mosaic trisomy 8 is caused by a chromosomal change that is new to the child. This means that neither parent has the extra copy of chromosome 8, and the chances are low that the same change will happen in another pregnancy. If a parent carries a balanced chromosome translocation there may be an increased risk to have another child with mosaic trisomy 8. Speak with your doctor or a genetic counselor to discuss your personalized risk.

It may be difficult to find ways to donate to mosaic trisomy 8 specifically. It is possible to donate to the National Organization for Rare Disorders (NORD), which is an organization that supports research in a variety of less common diseases. You can donate at [link url="” target=”_blank”>https://rarediseases.org/get-involved/donate-now/ways-donate/

Other helpful groups that you may wish to donate to are:

Mosaic trisomy 8 is typically diagnosed by a chromosomal analysis or karyotype. A karyotype is a picture of the chromosomes, which are packages of our genetic information. Mosaic trisomy 8 may also be detected by another test called a chromosomal microarray. Chromosome microarray is able to detect smaller additions or deletions of genetic information that can be seen with a standard karyotype. Low levels of trisomy 8 mosaicism may be missed by a chromosome microarray.

Speak to a genetic counselor or a medical geneticist to discuss genetic testing for mosaic trisomy 8.

Since this is a rare disorder, it may be difficult to find research in mosaic trisomy 8 specifically. To find current studies, go to [link url="” target=”_blank”>clinicaltrials.gov and search for mosaic trisomy 8.

If a baby is diagnosed with mosaic trisomy 8 during a pregnancy, you may be referred to a maternal fetal medicine doctor (MFM) and/or genetic counselor. These healthcare providers specialize in high risk pregnancies.

If you have mosaic trisomy 8, a medical genetics clinic can help you determine which specialists you should see. For example, if you have scoliosis, you may want to see an orthopedic doctor. If you have agenesis of the corpus callosum (ACC), where the tissue that connects the left and right parts of the brain does not develop, it may be necessary to work with a neurologist. If you have a heart defect you should see a cardiologist. If you have a cleft palate you may need the care of a plastic surgeon.

Find a medical geneticist near you to learn more about management for mosaic trisomy 8.

Chromosome testing to diagnose mosaic trisomy 8 is typically done on a blood sample. If testing is being done prenatally (before the child is born), it may be done through chorionic villus sampling or amniocentesis.

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

Typically, the more cells that have trisomy 8 (the extra copy of chromosome 8) in the body, the more severe the medical problems will be expected to be. Otherwise, there is nothing that makes the symptoms of mosaic trisomy 8 worse.

Speak to a medical geneticist to learn more about the symptoms of mosaic trisomy 8.

Agenesis of the corpus callosum (ACC), when the tissue that connects the left and right parts of the brain does not develop, can cause a range of symptoms. In the mildest cases, people with ACC may have trouble with visual patterns. In more severe forms, it can cause seizures, extra fluid in the brain (hydrocephalus), and muscle stiffness (hypertonia).

Individuals with mosaic 8 may or may not be able to have children. Many people with mosaic trisomy 8 have miscarriages. However, there are people with mosaic trisomy 8 that have had successful pregnancies. These pregnancies may need high risk management. Speak with your doctor if you are thinking about having children or have reproductive questions.

It is not certain how many people with mosaic trisomy 8 have learning difficulties. However, it appears in the medical literature that more people will have learning disabilities than will not. There is a wide range of intellectual disabilities in people with mosaic trisomy 8. In some people learning disabilities are not present while in other people learning disabilities are severe.

Some of the symptoms of mosaic trisomy 8 can be treated. For example, surgery may be needed at birth to repair a cleft palate or a heart problem. If a person with mosaic trisomy 8 has stiff joints, they may benefit from physical and occupational therapy to improve movement. If a person is diagnosed with intellectual disability, people with mosaic trisomy 8 may need to be in special classes and have an individualized Education Plan (IEP) to supplement their education. It may also be possible to control seizure activity through medication.

Speak to a medical geneticist to learn more about the management of mosaic trisomy 8.

Mosaic trisomy 8 may also be called Warkany syndrome.

To find support groups for mosaic trisomy 8 start by checking with your healthcare team for resources in your area. You can also join an online support group. The link for a mosaic trisomy 8 support group through Facebook is below:
[link url="” target=”_blank”>https://www.facebook.com/groups/Trisomy8/

There are also support groups for people with different types of trisomies. One such group is called Trisomy Online and can be found at [link url="” target=”_blank”>http://www.trisomyonline.org/families.htm.

Other helpful groups are:

All forms of mosaic trisomy 8 are genetic and involve our genetic material. Everyone who is diagnosed with mosaic trisomy 8 has an extra chromosome 8 in some, but not all, cells of the body.

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

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.