Trisomy 8q

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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.

References
  • Townes, P.L., White, M.R. (1978). Inherited partial trisomy 8q (22 leads to qter). Am J Dis Child. 132(5):498-501. http://www.ncbi.nlm.nih.gov/pubmed/645677
  • Stengel-Rutkowski, S., Lohse, K., Herzog, C., Apacik, C., Couturier, J., Albert, A., Belohradsky, B. (1992) Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk. Clin Genet. 42(4):178-85. http://www.ncbi.nlm.nih.gov/pubmed/1424241
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If I have had a child with trisomy 8q, do I have an increased chance of having miscarriages?

How is trisomy 8q diagnosed before birth?

If I have a child with trisomy 8q, what are the chances that my next child will have it?

How are congenital heart defects treated in trisomy 8q?

How common is trisomy 8q?

What symptoms of trisomy 8q can be seen on ultrasound?

My doctor says that trisomy 8q was caused by a translocation. What is that?

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 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.

References
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 vagina 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.

References
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.

References
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.

References
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.

References
  • Wood, E., Dowey, S., Saul, D., Cain, C., Rossiter, J., Blakemore, K., Stetten, G. (2008). Prenatal diagnosis of mosaic trisomy 8q studied by ultrasound, cytogenetics, and array-CGH. Am J Med Genet A. 146A(6):764-9. http://www.ncbi.nlm.nih.gov/pubmed/18241063
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.

References
  • Wood, E., Dowey, S., Saul, D., Cain, C., Rossiter, J., Blakemore, K., Stetten, G. (2008). Prenatal diagnosis of mosaic trisomy 8q studied by ultrasound, cytogenetics, and array-CGH. Am J Med Genet A. 146A(6):764-9. http://www.ncbi.nlm.nih.gov/pubmed/18241063
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.

References
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.

References

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