Who else in my family should I test for trisomy 8q?
If a child is born with trisomy 8q, it is important to order a DNA test called a karyotype on the parents. There may be a rearrangement (called a balanced translocation) in one of the parent’s chromosomes that makes it more likely that their future children will have trisomy 8q. If a parent is found to have balanced translocation, unaffected siblings of the child with trisomy 8q as well as siblings of the parent with the translocation (aunts and uncles of the affected child) should be tested to see if they carry the same rearrangement. Check with your healthcare team if you have additional questions about who in your family should be tested.
Where do I find other people with trisomy 8q?
Start by checking with your healthcare team for resources in your area. You can also join an online support group, such as a group for people with different types of trisomies. One such group is called Trisomy Online and can be found at http://www.trisomyonline.org/families.htm. Another is called Unique and can be found at http://www.rarechromo.org/html/home.asp.
You may also be able to connect with other family on Facebook by searching for ‘trisomy 8q’ or ‘8q duplication’.
What symptoms of trisomy 8q can be seen on ultrasound?
An ultrasound can most times reveal kidney problems, heart defects, poor growth, a small head, and differences in the bones. If symptoms are present, it is important to do DNA testing to either determine or confirm the diagnosis.
What specialist doctors should I see with trisomy 8q?
If you are pregnant with a child that has trisomy 8q, you may be referred to a maternal fetal medicine doctor (MFM). These doctors specialize in pregnancies that require special care and attention.
A child born with trisomy 8q will usually need to see a medical genetics team. This team can help in diagnosis and counseling of families. To find a Genetics Clinic, visit https://www.genetests.org/clinics/ and search for ‘Pediatric Genetics’
Depending on the symptoms, certain specialists can be consulted. For example, if the child has problems with their bones, they can see an orthopedic doctor, if a child has problems with their heart, they can see a cardiologist, and if a child has problems with their kidneys, they should see a urologist.
What is trisomy 8q?
In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty-two of these pairs, called autosomes, are the same in both males and females. The 23rd pair, called the sex chromosomes, differs between males and females. Each of these chromosomes has 2 parts, called the long arm and the short arm. The long arm is referred to as “q” and the short arm is abbreviated “p”. In trisomy 8q, an extra copy of all or part of the long arm of chromosome 8 is present in the cells of the body. The cells that have an extra chromosome 8q are called “trisomic”. Sometimes, only some cells of the body have an extra 8q and others do not. This is called “mosaic”.
An extra copy of chromosome 8q can cause a range of symptoms, including specific facial features, poor growth, heart and kidney problems, and intellectual disability. Babies with trisomy 8q may be smaller even before they are born. The symptoms may be more or less severe depending on how much of chromosome 8q is included in the extra copy. Usually, having more of the chromosome will result in more serious symptoms.
What is the usual abbreviation for trisomy 8q?
There is not a common abbreviation for trisomy 8q.
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.
What happens because of that gene change in trisomy 8q?
Scientists and doctors are not sure exactly how having an extra copy of chromosome 8q causes these symptoms. The extra set of instructions may interfere with normal development. In trisomy 8q, there is debate about which part of chromosome 8q is the major cause of the symptoms.
What gene change or mutation causes trisomy 8q?
In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. These are the instruction manuals for the body. Twenty-two of these pairs, called autosomes, are the same in both males and females. The 23rd pair, the sex chromosomes, differs between males and females(XX for females and XY for males. Each of these chromosomes has 2 parts, called the long arm and the short arm. The long arm is referred to as “q” and the short arm is called “p”. In trisomy 8q, the cells of the body have an extra copy of all or part of the long arm of chromosome 8. Cells of the body are called “trisomic” when they have an extra copy of chromosome 8q. Sometimes, only some cells of the body have an extra 8q and others do not. This is called “mosaic”.
What does it mean to have inherited a variant in the gene for trisomy 8q?
Genes are small parts of the larger chromosome. There is not a specific gene that causes trisomy 8q. Instead, people with this disorder have an extra copy of the long arm of chromosome 8 (duplication) in the cells of the body, which means they have an extra copy of every gene in the duplicated piece of chromosome 8q. This is different than having a change (mutation) in a single gene on the larger chromosome. Therefore, people with trisomy 8q do not have variants in a specific gene.
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.
My doctor says that trisomy 8q was caused by a translocation. What is that?
A translocation is a change or rearrangement that can happen in the chromosomes. Essentially, one part of a chromosome attaches to another chromosome where it does not belong. If the chromosomes were compared to books, then a translocation would be when pages of one book are placed into another book.
Translocations are called ‘balanced’ when there are no extra or missing pieces of the chromosomes and ‘unbalanced’ when some pieces of the chromosomes are duplicated (extra copy) or deleted (missing copy).
A child with trisomy 8q usually has an unbalanced translocation which results in there being an extra copy of chromosome 8q. In many cases, one of the parents is found to carry a balanced translocation.
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.
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.
Is there newborn testing for trisomy 8q?
Trisomy 8q is not included in the newborn screen that is given to all new babies. However, if trisomy 8q is suspected, the medical team can order a karyotype, which is a picture of the chromosomes, the instructions for the body, or an an array comparative genomic hybridization (array-CGH), which tests smaller regions of the chromosomes for extra or missing pieces. These tests will allow your healthcare team to see if there is an extra copy of chromosome 8q in some of the cells of the body. These tests are usually done on the blood.
Is there more than one test for trisomy 8q?
There are two tests that an confirm the diagnosis of trisomy 8q.
The first is called a karyotype. This is a picture of the chromosomes, which are instructions for the body. It allows your healthcare team to see if there is an extra copy of chromosome 8q in the cells of the body and where that extra piece is located.
The other type of test that can diagnose trisomy 8q is called array comparative genomic hybridization (array-CGH), which tests smaller regions of the chromosomes for extra or missing pieces. This test can define exactly how big the duplicated piece of the chromosome 8q is and what genes are included in the duplication. Array-CGH cannot tell where the extra copy of chromosome 8q is located.
Is there clinical research going on for trisomy 8q?
Because this condition is so rare, there is not current research in trisomy 8q. To check if a study on this disorder has started, go to clinicaltrials.gov and search for trisomy 8q.
Is there a treatment(s) for trisomy 8q?
Unfortunately, trisomy 8q cannot be cured. But, the symptoms of the disorder can sometimes be treated. For example, in some cases surgery can be done to correct a heart problem. Early intervention to help with development is also important since most children will have intellectual disability.
Is there a predisposition or a cause for trisomy 8q?
Having an extra copy of chromosome 8q in the cells of the body causes trisomy 8q. No other factor is necessary in order to show the signs or symptoms of the condition.
If a person has a rearrangement of the chromosomes without having any extra or missing pieces (called a balanced translocation) that involves chromosome 8q, they are at increased risk to have a child with trisomy 8q even though they don’t have any symptoms themselves.
If I have trisomy 8q, what should my doctor know about managing the disease?
Your doctor should be knowledgeable about your individual symptoms. They should know to monitor for delayed development, such as walking later than peers, and intellectual disability. They should check for heart, kidney, and skeletal problems. Parents of a child with trisomy 8q should be tested for a chromosome rearrangement called a balanced translocation that can increase the chances of having another child affected with the condition.
If I have had a child with trisomy 8q, do I have an increased chance of having miscarriages?
It depends on the genes of the parents. Most of the time, parents of children with trisomy 8q have a gene change called a balanced translocation. This is where a part of a chromosome attaches to another chromosome and ends up in an unexpected location. Because the normal number of copies of all the chromosomes are present, the parent does not have any symptoms.
Balanced translocations involving chromosome 8q make it more likely that future children will have trisomy 8q (or another chromosome abnormality, depending on the rearrangement). Because many chromosome abnormalities can be lethal in the womb, it may mean that there is an increased chance for miscarriages in future pregnancies.
However, if there is no translocation in the parents, the chances are much lower that another child will have trisomy 8q or that a pregnancy would end in miscarriage.
Be sure to check with your healthcare team for information specific to your test results.
If I have a child with trisomy 8q, what are the chances that my next child will have it?
It depends on the genes of the parents. Most of the time, parents of children with trisomy 8q have a gene change called a balanced translocation. This is where a part of a chromosome attaches to another chromosome and ends up in an unexpected location. Because the normal number of copies of all the chromosomes are present, the parent does not have any symptoms. Balanced translocations make it more likely that future children will have trisomy 8q (or other chromosome abnormalities).
However, if there is no translocation in the parents, the chances are much lower that another child will have trisomy 8q.
Be sure to check with your healthcare team for information specific to your test results.
If a parent has a translocation that makes it more likely that they will have a child with trisomy 8q, how can they reduce their likelihood of having a child with the disorder?
If a parent has a balanced translocation, they can consider in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD) to reduce the likelihood of having a child with trisomy 8q. This involves taking an egg from the mom and fertilizing it with sperm. The developing embryo (the combined egg and sperm) can then be tested for the trisomy. This testing is called PGD. It is important to know the exact DNA changes in mom and dad before this is done. The doctor will then monitor the growth of the embryo and place an embryo without trisomy 8q into the woman’s uterus. If you are interested in this option, consult your doctor and seek a fertility clinic in your area.
How long do people with trisomy 8q live?
Since this is a rare disorder with variable symptoms, it is difficult to predict how long children with trisomy 8q will live.
How is trisomy 8q inherited?
Trisomy 8q can be inherited in two ways. In most cases, the parent has a balanced translocation. This means that the chromosomes are rearranged so that the long arm of chromosome 8 is found in a different place than expected, for example, attached to a different chromosome, but there are no missing or extra copies. If a parent has a balanced translocation involving chromosome 8q, this makes it more likely for their children to have trisomy 8q. If a parent has a balanced translocation involving chromosome 8q, every pregnancy is at risk to have trisomy 8q. Because translocations can be inherited, other family members (including unaffected siblings of the child and siblings of the parent found to have a translocation (aunts and uncles of the affected child)) may also carry the same translocation and should be tested to find out if their children are at risk to have trisomy 8q as well.
The second way trisomy 8q happens is called “de novo” and is the result of a new change in either the sperm or egg. This change causes the sperm or egg cell to have an extra copy of chromosome 8q, which is the long arm of chromosome 8. In this case, the change is new to the child, meaning that neither parent has trisomy 8q or a translocation. In most cases, if the change is new to the child, the chance for the child’s siblings to be affected is low.
How is trisomy 8q diagnosed before birth?
If trisomy 8q is suspected, a sample of the baby’s DNA is needed to diagnose the disorder. A baby’s DNA can be found in the placenta or in the amniotic fluid (the liquid surrounding the baby in the womb). Between 10-13 weeks of age, the placenta can be sampled through chorionic villus sampling (CVS). The doctor would insert an instrument through the vagin* or abdomen to obtain the sample. After about 16 weeks of pregnancy, the amniotic fluid can be sampled by inserting a needle through the mother’s abdomen (called amniocentesis). The fluid contains cells from the baby which can be tested. However, if there is not enough amniotic fluid (oligohydramnios), the doctor may do a CVS later in pregnancy. The cells collected through either CVS or amniocentesis can be tested for trisomy 8q and other chromosome abnormalities.
How do I give money to help research in trisomy 8q?
It may be difficult to find ways to donate to trisomy 8q research 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.
How do I get tested for trisomy 8q?
The test used to diagnose trisomy 8q is called a karyotype. This is a picture of the chromosomes, which are instructions for the body. It allows your healthcare team to see if there is an extra copy of chromosome 8q in the cells of the body and where that extra piece is located.
The other type of test that can diagnose trisomy 8q is called array comparative genomic hybridization (array-CGH), which tests smaller regions of the chromosomes for extra or missing pieces. This test can define exactly how big the duplicated piece of chromosome 8q is and what genes are included in the duplication. Array-CGH cannot tell where the extra copy of chromosome 8q is located.
These tests are usually done on blood if your healthcare team suspects your child may have trisomy 8q or another chromosome anomaly. If symptoms are seen on an ultrasound before birth, these tests can be done on the baby before birth. This is usually done by taking a sample of the placenta or amniotic fluid, which is the fluid that the baby floats in inside the mother, and then testing cells from this sample for extra or missing chromosomes.
How do I find clinical research in trisomy 8q?
Since this is a rare disorder, it may be difficult to find research in trisomy 8q specifically. To find current studies, go to clinicaltrials.gov/ and search for trisomy 8q.
How do I find a center of excellence in trisomy 8q?
If you are pregnant with a child that has trisomy 8q, you may be referred to a maternal fetal medicine doctor (MFM). These doctors specialize in pregnancies that require special care and attention.
A child born with trisomy 8q will usually need to see a medical genetics team. This team can help in diagnosis and counseling of families. To find a Genetics Clinic, visit https://www.genetests.org/clinics/ and search for ‘Pediatric Genetics’.
Depending on the symptoms, certain specialists can be consulted. For example, if the child has problems with their bones, they can see an orthopedic doctor, if a child has problems with their heart, they can see a cardiologist, and if a child has problems with their kidneys, they should see a kidney specialist (nephrologist).
How common is trisomy 8q?
As of 2008, only 25 people with trisomy 8q or partial trisomy 8q had been reported in the medical literature. This means that this condition is extremely rare.
How are congenital heart defects treated in trisomy 8q?
If a child with trisomy 8q has a congenital heart defect, or a problem with the heart at birth, it may or may not require surgery. Sometimes, only one procedure is needed. Other times, multiple surgeries and medication may be necessary. Treatment depends on the specific problem that is present.
Does it matter if you test blood vs. saliva vs biopsy for trisomy 8q?
Usually, DNA testing is done on the blood to test for trisomy 8q.
Testing can also be done before a baby is born on cells collected from the amniotic fluid or placenta.
Does anything make trisomy 8q worse?
There is nothing that makes the symptoms of trisomy 8q worse.
Are there other organ specific treatments for trisomy 8q?
Treatment of trisomy 8q will depend on what features are present. If a child has a heart defect, surgery may be an option to correct this. Kidney problems should be managed by a specialist called a urologist. Early intervention to help with development is also important since most children will have intellectual disability.
Are there other names for trisomy 8q?
Other names for trisomy 8q are duplication 8q, mosaic trisomy 8q, or partial trisomy 8q.
Are there good support groups for trisomy 8q?
Be sure to check with your healthcare team for support groups in your area. It may be difficult to find other families with trisomy 8q since it is such a rare disorder. There are support groups available for people with different types of trisomies. One such group is called Trisomy Online and can be found at http://www.trisomyonline.org/families.htm. Another is called Unique and can be found at http://www.rarechromo.org/html/home.asp.
If you are a parent that has lost a child with trisomy 8q, there are many online support groups that may fit this need. Share is an organization that has resources for parents after loss in addition to organizing support groups. They can be found at http://nationalshare.org/. Compassionate Friends is another organization that offers similar resources: http://www.compassionatefriends.org/Find_Support.aspx. If the child was lost before birth, Helping After Neonatal Death (HAND) is an organization that offers support for parents: http://handonline.org/.
Are there forms of trisomy 8q that aren’t genetic?
All forms of trisomy 8q are genetic. Everyone with trisomy 8q has an extra copy of the genetic material present on chromosome 8q in the cells of the body.
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.
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.
