In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Each pair is numbered 1 through 22 except for the sex chromosomes which are denoted by "X" and "Y." Women have two Xs while men have one X and one Y. In complete trisomy 14, ALL of the cells of the body have an extra chromosome 14, which means that there are 47 chromosomes in all the cells. A fetus with an extra chromosome 14 in all its cells will usually miscarry and not make it to term.
In mosaic trisomy 14, some of the cells of the body have an extra chromosome 14, which means that there are 47 chromosomes in those cells, and some of the body’s cells have the normal number of 46 chromosomes. The cells with the extra chromosome 14s are called "trisomic" as they have the three copies of chromosome 14. The word "mosaic" means that only some cells have the extra chromosome, while other cells are normal (they do not have any additional or missing chromosome material).
An extra chromosome 14 causes a range of symptoms including intellectual disability, specific facial features, heart problems, being smaller than peers, and slower development. Babies with mosaic trisomy 14 may also be small before they are born and have "failure to thrive", which means they do not weigh enough for their age. Everyone with mosaic trisomy 14 can have a different set of symptoms because they may have a different number of trisomic cells, which may be present in different parts of the body.
When mosaic trisomy 14 is found before a baby is born, through chorionic villus sampling (CVS) or amniocentesis, it can be very difficult to predict what health problems will occur. If the CVS test identified mosaic trisomy 14, then there is a chance that all the trisomy 14 cells are only in the placenta and not in the baby (confined placenta mosaicism). In this case, an amniocentesis may be suggested to look at the baby’s cells directly. If the cells with extra chromosome 14 are in the baby and the placenta, usually the baby’s health is suggested based up on the percent of cells that have the extra chromosome 14. The baby’s health issues will vary and may be determined by factors such as if the test showed the extra chromosome 14 by chorionic villus sample or amniocentesis or both, if the extra chromosome is from mom or dad, and if there are health problems or birth defects seen on ultrasound. Medical geneticists and genetic counselors can be very helpful in discussing the possible outcomes based on this information.
Most often infants with many cells that have the extra chromosome 14 disorder are very sick and many die early in life. However, individuals with less cells with the extra chromosome 14 have less health issues and may live longer. Rarely, individuals with a very small amount of extra chromosome 14 cells found on prenatal testing may have very few to no medical issues and live a normal life span.
It can be called: trisomy 14 mosaic and trisomy 14 mosaicism syndrome.
The most common abbreviations for this disorder is Mosaic Ts14 or T14M
Frequently Asked Questions About Mosaic trisomy 14
Will a child with mosaic trisomy 14 be able to go to school?
It is very hard to predict the effect of mosaic trisomy 14 on a child’s intellect; however, individuals with mosaic trisomy 14 can attend school. Most children will need extra help and an individualized education learning plan (IEP), although the amount of help they need varies. Generally, children benefit from early intervention programs and from attending special preschools and/or schools that address their individual needs. In other cases, some children will attend regular elementary schools and not need support.
Who else in my family should I test for mosaic trisomy 14?
Mosaic trisomy 14 is usually new (or de novo) in the person who has it, which means that neither parent has mosaic trisomy 14. If the condition is new, it is most likely not necessary to test other family members. Chromosome testing may be performed on the parents to see if they have a chromosome change called a translation that makes it more likely for their children to inherit this disorder. You can check with your healthcare provider or a local genetic counselor if you have additional questions about who in your family should be tested.
Where do I find other people with mosaic trisomy 14?
Start by checking with your healthcare team for resources in your area. You can also join an online support group. There is an online support group through Facebook for people with mosaic trisomy 14 and their families. It can be found at: https://www.facebook.com/Trisomy-14Mosaic-Trisomy-14-Awareness-158760880920252/.
Other good options are chromosomal support groups such as:
What specialist doctors should I see with mosaic trisomy 14?
People with mosaic trisomy 14 should see a medical genetics team. These healthcare providers specialize in genetic disorders and will be able to look at the full picture of the disorder. They may refer people with mosaic trisomy 14 to specialists depending on their individual symptoms. For example, newborns may see a surgeon if they need to have a heart problem fixed.
What is the usual abbreviation for mosaic trisomy 14?
The most common abbreviations for this disorder is Mosaic Ts14 or T14M
What is mosaic trisomy 14?
In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Each pair is numbered 1 through 22 except for the sex chromosomes which are denoted by "X" and "Y." Women have two Xs while men have one X and one Y. In complete trisomy 14, ALL of the cells of the body have an extra chromosome 14, which means that there are 47 chromosomes in all the cells. A fetus with an extra chromosome 14 in all its cells will usually miscarry and not make it to term.
In mosaic trisomy 14, some of the cells of the body have an extra chromosome 14, which means that there are 47 chromosomes in those cells, and some of the body’s cells have the normal number of 46 chromosomes. The cells with the extra chromosome 14s are called "trisomic" as they have the three copies of chromosome 14. The word "mosaic" means that only some cells have the extra chromosome, while other cells are normal (they do not have any additional or missing chromosome material).
An extra chromosome 14 causes a range of symptoms including intellectual disability, specific facial features, heart problems, being smaller than peers, and slower development. Babies with mosaic trisomy 14 may also be small before they are born and have "failure to thrive", which means they do not weigh enough for their age. Everyone with mosaic trisomy 14 can have a different set of symptoms because they may have a different number of trisomic cells, which may be present in different parts of the body.
When mosaic trisomy 14 is found before a baby is born, through chorionic villus sampling (CVS) or amniocentesis, it can be very difficult to predict what health problems will occur. If the CVS test identified mosaic trisomy 14, then there is a chance that all the trisomy 14 cells are only in the placenta and not in the baby (confined placenta mosaicism). In this case, an amniocentesis may be suggested to look at the baby’s cells directly. If the cells with extra chromosome 14 are in the baby and the placenta, usually the baby’s health is suggested based up on the percent of cells that have the extra chromosome 14. The baby’s health issues will vary and may be determined by factors such as if the test showed the extra chromosome 14 by chorionic villus sample or amniocentesis or both, if the extra chromosome is from mom or dad, and if there are health problems or birth defects seen on ultrasound. Medical geneticists and genetic counselors can be very helpful in discussing the possible outcomes based on this information.
Most often infants with many cells that have the extra chromosome 14 disorder are very sick and many die early in life. However, individuals with less cells with the extra chromosome 14 have less health issues and may live longer. Rarely, individuals with a very small amount of extra chromosome 14 cells found on prenatal testing may have very few to no medical issues and live a normal life span.
What health problems should I look for in mosaic trisomy 14?
Unfortunately, the symptoms of mosaic trisomy 14 are difficult to predict and may range from severe to mild, particularly if identified prenatally.
When mosaic trisomy 14 is found before a baby is born, through chorionic villus sampling (CVS) or amniocentesis, it can be very difficult to predict what health problems will occur. If the CVS test identified mosaic trisomy 14, then there is a chance that all the trisomy 14 cells are only in the placenta and not in the baby (confined placenta mosaicism). In this case, an amniocentesis may be suggested to look at the baby’s cells directly. If the cells with extra chromosome 14 are in the baby and the placenta, usually the baby’s health is suggested based up on the percent of cells that have the extra chromosome 14. The baby’s health issues will vary and may be determined by factors such as if the test showed the extra chromosome 14 by CVS or amniocentesis or both, if the extra chromosome is from mom or dad, and if there are health problems or birth defects seen on ultrasound. Medical geneticists and genetic counselors can be very helpful in discussing the possible outcomes based on this information.
Most often infants with many cells that have the extra chromosome 14 disorder are very sick and many die early in life. However, individuals with less cells with the extra chromosome 14 have less health issues and live longer. Rarely, individuals with a very small amount of extra chromosome 14 cells found on prenatal testing may have very few to no medical issues and live a normal life span.
At birth, babies with mosaic trisomy 14 may have growth issues including failure to thrive, problems with the heart, respiratory problems, and problems involving other organ systems.
What happens because of that gene change in mosaic trisomy 14?
Scientists and doctors are not sure exactly how having an extra chromosome can cause the symptoms of mosaic trisomy 14. The extra set of instructions appears to interfere with normal development. The word "mosaic" means that only some cells have the extra chromosome and others do not. An extra chromosome 14 causes a range of symptoms, including intellectual disability, specific facial features, heart problems, being smaller than peers, and slower development. Babies with mosaic trisomy 14 may also be small before they are born and have "failure to thrive", which means they do not weigh enough for their age. Everyone with mosaic trisomy 14 can have a different set of symptoms because they may have a different number of trisomic cells, and they may be in different parts of the body.
What gene change or mutation causes mosaic trisomy 14?
Humans normally have 23 pairs of chromosomes for a total of 46. Each pair is numbered 1 through 22 except for the sex chromosomes which are denoted by "X" and "Y." Women have two Xs while men have one X and Y. In mosaic trisomy 14, some of the cells of the body have an extra chromosome 14, which means that there are 47 chromosomes in those cells. The word "mosaic" means that only some cells have the extra chromosome and others do not. The extra chromosome 14 causes the symptoms of mosaic trisomy 14.
What are the main symptoms of mosaic trisomy 14?
People with mosaic trisomy 14 can have many different symptoms, including changes to growth and development. Babies with mosaic trisomy 14 are often small before birth, which is sometimes called intrauterine growth retardation (IUGR). At birth, their weight may be low and they may not grow at the expected rate, called failure to thrive. Infants with this disorder may also have difficulty eating. In some cases, babies with mosaic trisomy 14 are born with heart problems that need treatment.
People with mosaic trisomy 14 may also have intellectual disability or learning problems. As they grow, it may become apparent that different parts of the body are growing faster than others, called asymmetrical growth. They can also have parts of the skin that are slightly different colors and problems with the bones, such as overlapping fingers and toes. People with this disorder can also have specific facial features, including widely spaced eyes, differently shaped ears, and a large forehead. Boys with mosaic trisomy 14 can also have minor problems with their genitals, such as the testes staying in the abdomen instead of coming down, also called undescended testicles. Girls with mosaic trisomy 14 do not typically have genital or urinary problems.
Everyone with mosaic trisomy 14 can have a different set of symptoms because they may have a different number of trisomic cells, and these trisomic cells may be more common in different parts of the body.
My doctor says my child with mosaic trisomy 14 has failure to thrive. What is failure to thrive and how is it treated?
Failure to thrive means that a child is not growing or developing at the expected rate. If an infant with mosaic trisomy 14 is failing to thrive, they may need a gastronomy tube or g-tube. This is a tube that is place directly into the child’s stomach, so that they get enough nutrients to help them grow.
Is there newborn testing for mosaic trisomy 14?
Newborn screening does not detect mosaic trisomy 14. If this condition is suspected, the pediatrician can order a chromosomal analysis through karyotype or microarray. This allows us to see a picture of the baby’s chromosomes to see if there is an extra chromosome 14 in some of the cells of the body.
Is there more than one test for mosaic trisomy 14?
The main test to diagnosis mosaic trisomy 14 is chromosome analysis, which allows a karyotype to be created. A karyotype is a picture of the chromosomes, which are the instructions for the body and contain all of our genetic information. The karyotype allows your healthcare providers to see if there is an extra chromosome 14 in some of the cells of the body. An extra trisomy 14 chromosome can also be detected on a test called a chromosomal microarray analysis, which identifies extra or missing chromosomes and chromosome pieces. Your healthcare provider may also suggest uniparental disomy (UPD) testing, which helps to determine if the extra chromosome is from mom or dad. UPD can lead to other genetic conditions.
If mosaic trisomy 14 is diagnosed by any of these methods, your healthcare provider may perform other tests to screen for symptoms or health problems associated with mosaic trisomy 14. For example, an ultrasound of the heart can be done to make sure there are no problems.
Is there clinical research going on for mosaic trisomy 14?
Currently, there are no research studies for mosaic trisomy 14. To check if a study on this disorder has started, go to clinicaltrials.gov and search for mosaic trisomy 14.
Is there a treatment(s) for mosaic trisomy 14?
There is no cure for mosaic trisomy 14. However, there are treatments for the individual symptoms of mosaic trisomy 14. For example, surgery can be done at birth to repair problems with the heart or to fix an opening in the roof of the mouth (cleft palate).
Early intervention can also be helpful for ensuring that children with mosaic trisomy 14 reach their full potential. Services may include but not be limited to physical therapy, speech therapy, special education and other medical and social services.
Is there a predisposition or a cause for mosaic trisomy 14?
Having an extra copy of chromosome 14 in some, but not all, cells of the body cause mosaic trisomy 14. No other factor is necessary in order to show the symptoms. Mosaic trisomy 14 is most often caused by a random error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. There have been reports in which mosaic trisomy 14 may have occurred due to other phenomenon, such a uniparental disomy or the formation of an isochromosome. Uniparental disomy occurs when an affected individual inherits both copies of a chromosomal pair from one parent, rather than one copy from each parent. An isochromosome is an abnormal chromosome with identical arms on each side of the middle.
If I have mosaic trisomy 14, what should my doctor know about managing the disease?
Your doctor should be knowledgeable about your individual symptoms and know what kind of problems to look out for. For example, your doctor may want to monitor the lungs for infection, which need treatment right away.
If I have a child with mosaic trisomy 14, what are the chances that my next child will have it?
Usually, mosaic trisomy 14 is caused by a chromosomal change that is new (or de novo) in the child, which means that neither parent has the extra copy of chromosome 14. If both parents have normal chromosomes with no rearrangements or extra/missing chromosomes, then the chances are low that another child will have the same condition. It is important to talk with your healthcare provider or a genetic counselor to assess the risk in future pregnancies.
How long do people with mosaic trisomy 14 live?
It is hard to predict exactly how long someone with mosaic trisomy 14 will live. Most often, babies that have many cells with the extra chromosome 14 are very sick and die early in life. However, about 2/3 or 67%, of individuals with mosaic trisomy 14 live into childhood. There have been reports of people with mosaic trisomy 14 living into their late 20s. Individuals with fewer cells containing the extra chromosome 14 tend to have less health issues and tend to live longer. Rarely, individuals who have only a very few number of extra chromosome 14 cells, which may be found on prenatal testing, will have few to no medical issues and live a normal life span. It is hard to predict since it may not be clear exactly which cells in the body contain the extra chromosome 14.
When mosaic trisomy 14 is found before a baby is born, through chorionic villus sampling (CVS) or amniocentesis, it can be very difficult to predict what health problems will occur. If the CVS test identified mosaic trisomy 14, then there is a chance that all the trisomy 14 cells are only in the placenta and not in the baby (confined placenta mosaicism). In this case, an amniocentesis may be suggested to look at the baby’s cells directly. If the cells with extra chromosome 14 are in the baby and the placenta, usually the baby’s health is suggested based up on the percent of cells that have the extra chromosome 14. The baby’s health issues will vary and may be determined by factors such as if the test showed the extra chromosome 14 by chorionic villus sample or amniocentesis or both, if the extra chromosome is from mom or dad, and if there are health problems or birth defects seen on ultrasound. Medical geneticists and genetic counselors can be very helpful in discussing the possible outcomes based on this information.
To find a genetic professional near you who can discuss genetic testing, visit the following two sites: A listing of medical geneticists can be found at the American College of Medical Geneticists website ([link url="” target=”_blank”>www.acmg.net) and genetic counselors can be found on the National Society of Genetic Counselors website: [link url="” target=”_blank”>www.nsgc.org.
How is mosaic trisomy 14 inherited?
Mosaicism is caused by an error in cell division very early in the development of the unborn baby. This change causes the baby to have an extra chromosome. In some cases, when the egg and sperm combine, they make a cell with 47 chromosomes versus the normal 46. Mosaicism occurs when the extra chromosome is not passed on to all the cells created from the original cell. Other times a cell with 46 chromosomes early in development has an error in dividing chromosome and this also leads to two different cell types in the body. There are also other, less common of mosaic trisomy 14, in which a parent has a chromosome translocation. The parent may pass on the translocation to a fetus, which causes an unbalanced chromosomal translocation.
How is mosaic trisomy 14 diagnosed before birth?
If mosaic trisomy 14 is suspected, a sample of the baby’s genetic material or chromosomes is needed to diagnose the condition. The baby’s chromosomes contain all of an individual’s genetic material in the form of DNA. The baby’s DNA can be found in the placenta or in the amniotic fluid (the liquid surrounding the baby in the womb). During pregnancy and before 14 weeks of gestation, the placenta can be sampled through chorionic villus sampling (CVS). After 15 weeks gestation, a sample of amniotic fluid can be obtained by inserting a needle through the mother’s abdomen.
When mosaic trisomy 14 is found before a baby is born, through chorionic villus sampling (CVS) or amniocentesis, it can be very difficult to predict what health problems will occur. If the CVS test identified mosaic trisomy 14, then there is a chance that all the trisomy 14 cells are only in the placenta and not in the baby (confined placenta mosaicism). In this case, an amniocentesis may be suggested to look at the baby’s cells directly. If the cells with extra chromosome 14 are in the baby and the placenta, usually the baby’s health is suggested based up on the percent of cells that have the extra chromosome 14. The baby’s health issues will vary and may be determined by factors such as if the test showed the extra chromosome 14 by chorionic villus sample or amniocentesis or both, if the extra chromosome is from mom or dad, and if there are health problems or birth defects seen on ultrasound. Medical geneticists and genetic counselors can be very helpful in discussing the possible outcomes based on this information.
How do some cells in mosaic trisomy 14 get an extra chromosome 14 and others do not?
Mosaicism is caused by an error in cell division very early in the development of the unborn baby. This change causes the baby to have an extra chromosome. In some cases, when the egg and sperm combine, they make a cell with 47 chromosomes versus the normal 46. Mosaicism occurs when the extra chromosome is not passed on to all the cells created from the original cell. Other times a cell with 46 chromosomes early in development has an error in dividing chromosome and this also leads to two different cell types in the body. There are also other, less common of mosaic trisomy 14, causes such as an inherited unbalanced chromosomal translocation.
How do I give money to help research in mosaic trisomy 14?
It may be difficult to find ways to donate to mosaic trisomy 14 research specifically. It is possible to donate to fund to chromosomal support groups such as:
How do I get tested for mosaic trisomy 14?
Testing for mosaic trisomy 14 can be done during pregnancy through amniocentesis or chorionic villus sampling or after birth through a blood test. These diagnostic tests used most often to diagnose mosaic trisomy 14 allow us to see and analyze chromosomes, which is also called a chromosomal analysis or karyotype. Chromosomes are important because they are the instructions for the body. By evaluating the chromosomes, your healthcare providers can see if there is an extra chromosome 14 in some of the cells of the body.
An extra trisomy 14 chromosome can also be detected on a test called a chromosomal microarray analysis, which searches for extra or missing chromosomes and chromosome pieces. You healthcare provider may also recommend another test that can provide more information about mosaic trisomy 14. This test looks for uniparental disomy (UPD) and helps to determine if the extra chromosome 14 came from mom or dad. UPD can lead to other genetic conditions.
Prenatal ultrasound is a screening test that may identify some problems before birth, which may make your healthcare provider(s) suspect that the child has mosaic trisomy 14, so that diagnostic tests can be performed.
To find a genetic professional near you who can discuss genetic testing, visit the following two sites: A listing of medical geneticists can be found at the American College of Medical Geneticists website ([link url="” target=”_blank”>www.acmg.net) and genetic counselors can be found on the National Society of Genetic Counselors website: [link url="” target=”_blank”>www.nsgc.org.
How do I find clinical research in mosaic trisomy 14?
Since this is a rare disorder, it may be difficult to find research in mosaic trisomy 14 specifically. To find current studies, go to clinicaltrials.gov and search for mosaic trisomy 14. Additionally, support groups may have natural history studies open for involvement or knowledge of other chromosomal research. These support groups include:
How do I find a center of excellence specializing in mosaic trisomy 14?
If you are pregnant with a child that has mosaic trisomy 14, you may be referred to a Maternal Fetal Medicine doctor (MFM). These doctors specialize in pregnancies that require special care and attention. They often work with a genetic counselor who can help you understand more about mosaic trisomy 14 and help you find resources.
If a child with mosaic trisomy 14 is live born, a referral to a medical genetics clinic may be able to look at the whole picture. You may also want to seek out clinics that specialize in caring for the specific symptoms. For example, if there is a heart defect, they may need to see a pediatric or adult cardiologist. If a child has severe health problems, a pediatric hospice team may also be helpful for the whole family.
How are congenital heart defects treated in mosaic trisomy 14?
If a child with mosaic trisomy 14 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 defect.
Does it matter if you test blood versus saliva to diagnose mosaic trisomy 14?
DNA testing can be done on blood and saliva; however, it is usually done on the blood. If testing is being done prenatally, it may be done through chorionic villus sampling or via amniocentesis.
Are there other organ specific treatments and/or symptom specific concomitant treatments for mosaic trisomy 14?
Some of the symptoms of mosaic trisomy 14 can be treated. For example, surgery may be needed at birth to repair problems with the heart. Other symptoms can be treated as necessary.
Are there other names for mosaic trisomy 14?
It can be called: trisomy 14 mosaic and trisomy 14 mosaicism syndrome.
Are there good support groups for patients with mosaic trisomy 14?
Be sure to check with your healthcare team for support groups in your area.
There also is an online support group through Facebook for people with mosaic trisomy 14 and their families. It can be found at: https://www.facebook.com/Trisomy-14Mosaic-Trisomy-14-Awareness-158760880920252/.
Other good options are chromosomal support groups such as:
Are there forms of mosaic trisomy 14 disease that aren’t genetic?
All forms of mosaic trisomy 14 are genetic, but most forms are not inherited. Everyone with mosaic trisomy 14 has an extra chromosome 14 in some cells of the body.
Are there earlier onset, later onset, or variant forms of mosaic trisomy 14?
There are no other forms of mosaic trisomy 14. However, people with this disorder can have different symptoms from each other because they may have a different number of trisomic cells in the body, and these trisomic cells may be in different parts of the body.
Any other diseases that look a lot like mosaic trisomy 14?
There are many genetic diseases with similar symptoms to mosaic trisomy 14, including other mosaic trisomies. Mosaic trisomy 14 should be confirmed with genetic testing called chromosomal analysis or microarray in order to accurately diagnose the condition.
