Trisomy 4p

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How long do people with trisomy 4p live?

The life span of a person with trisomy 4p depends on how severe their symptoms are and if they get treatment. It is difficult to predict how long a person with trisomy 4p will live. There are reports of children living to at least 9 years of age.

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How is trisomy 4p diagnosed before birth?

If I have a child with trisomy 4p, what are the chances that my next child will have it?

How are congenital heart defects treated in trisomy 4p?

Will my child with trisomy 4p attend school?

My doctor says that my child’s trisomy 4p was caused by an inversion. What is that?

My doctor says that my child’s trisomy 4p was caused by a translocation. What is that?

If a parent has a translocation or inversion that makes it more likely that they will have a child with trisomy 4p, how can they reduce their likelihood of having a child with the disorder?

Does agenesis of the corpus callosum cause any health problems in trisomy 4p?

How is trisomy 4p diagnosed before birth?

If trisomy 4p is suspected, a sample of the baby’s DNA is needed to diagnose the condition. A baby’s DNA can be found in the placenta or in the amniotic fluid (the liquid surrounding the baby in the womb).

Chorionic villus sampling (CVS) and amniocentesis are procedures that collect samples for testing. Because CVS and amniocentesis are invasive, there is a small risk for miscarriage.

CVS removes a piece of the placenta to send to a laboratory for genetic testing. CVS can be done around 10-12 weeks of gestation.

Amniocentesis removes a sample of amniotic fluid to send to a laboratory for genetic testing. Amniocentesis can be done starting at 15 weeks of gestation.

If you are interested in prenatal testing, you can speak with a genetic counselor in your area. To find a genetic counselor near you, use the "Find a Genetic Counselor" tool on the National Society of Genetic Counselors' website.

If I have a child with trisomy 4p, what are the chances that my next child will have it?

The risk for future children to have trisomy 4p depends on the parents' genetic information. Most of the time, parents of children with trisomy 4p have a change in the location of their chromosome 4p. This change is usually a translocation or inversion. In a translocation, part of a chromosome attaches to another chromosome and ends up in an unexpected location. In an inversion, a section of a chromosome switches positions, or flips around.

Translocations and inversions make it more likely that future children will have the same condition. However, if there is no genetic change in the parents, the chances are much lower that another child will have trisomy 4p. Be sure to check with your healthcare team to talk about your risk. Genetic counselors can be found using the “Find a Genetic Counselor” tool on the National Society of Genetic Counselors’ website.

How are congenital heart defects treated in trisomy 4p?

A congenital heart defect is a heart problem that is present at birth. If a child with trisomy 4p has a congenital heart defect, it may or may not require surgery. Sometimes only one procedure is needed. Other times, several surgeries and medication may be necessary. Treatment depends on the specific heart defect.

Will my child with trisomy 4p attend school?

Children with trisomy 4p can attend school. They should be in specialized classes that can help with their individual needs and level of intellectual ability. In these classes, children with trisomy 4p can be successful.

My doctor says that my child’s trisomy 4p was caused by an inversion. What is that?

An inversion is a change that can happen in the chromosomes. An inversion happens when a section of a chromosome switches locations, or flips. If the chromosomes are compared to books, then an inversion would be like a chapter in the book that is written backwards.

My doctor says that my child’s trisomy 4p was caused by a translocation. What is that?

A translocation is a change that can happen in the chromosomes. One part of a chromosome attaches to another chromosome where it does not normally belong. If the chromosomes are compared to books, then a translocation would be like pages of one book being placed into another book. Because the chromosome 4p information is in an unusual place, it is more likely that a child will inherit an extra copy. Speak with a genetic counselor to find out how this happens. A genetic counselor can also talk to you about the chance that this could happen in a future pregnancy. Genetic counselors can be found using the “Find a Genetic Counselor” tool on the National Society of Genetic Counselors’ website.

If a parent has a translocation or inversion that makes it more likely that they will have a child with trisomy 4p, how can they reduce their likelihood of having a child with the disorder?

To lower the chance of having a child with trisomy 4p, parents can choose in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD). This involves taking an egg from the mother and fertilizing it with sperm from the father. Either the egg or the developing embryo (the combined egg and sperm) can be tested for the genetic change that the parent has. An embryo without the same change can then be implanted into the mother. If you are interested in this option, consult your doctor or a fertility clinic in your area. You can also speak with a genetic counselor who specializes in assisted reproductive technology. Genetic counselors can be found using the “Find a Genetic Counselor” tool on the National Society of Genetic Counselors’ website.

References
Does agenesis of the corpus callosum cause any health problems in trisomy 4p?

Agenesis of the corpus callosum (ACC) is when the tissue that connects the left and right parts of the brain does not develop. This can cause a range of issues ranging from mild to severe. Severity depends on what other brain abnormalities are also present. In more severe forms, ACC can cause seizures, extra fluid in the brain, muscle stiffness, and intellectual disability.

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