Chromosome 1p36 deletion syndrome

Diagnosis and Testing

Are there specific problems in 1p36 deletion syndrome that might be seen before a baby is born?

Unborn babies with 1p36 deletion syndrome may have birth defects that can be found on unltrasound before the baby is born. Unfortunately, there is no one or two specific ultrasound findings that can diagnose 1p36 deletion syndrome before birth without further diagnostic testing. However, problems with the heart and development of the face may mean that a child could have 1p36 deletion syndrome. In order to know for sure, however, an invasive test would need to be performed and appropriate testing ordered to detect 1p36 deletion syndrome. A genetic counselor can help you discuss the possible meaning of ultrasound findings and what testing would be most appropriate during pregnancy. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Additionally, there are some unborn babies with 1p36 deletion syndrome that will have no problems that can be found on an ultrasound before birth. Therefore, a normal ultrasound does not mean the baby is free of a chromosome deletion, such as 1p36.

References
Show More Content Like This

More Diagnosis and Testing Content

How does someone get tested for chromosome 1p36 microdeletion syndrome?

Is there newborn screening for chromosome 1p36 microdeletion syndrome?

Is there more than one test for chromosome 1p36 microdeletion syndrome?

Who else in the family should be tested if someone is found to have chromosome 1p36 microdeletion syndrome?

How will a genetic diagnosis of chromosome 1p36 microdeletion syndrome help my baby/child and my family?

How many laboratories in the United States perform genetic testing for chromosome 1p36 microdeletion syndrome?

Is there testing that can be performed during the pregnancy to see if a baby has chromosome 1p36 microdeletion syndrome?

Can I make sure my baby won't be affected with chromosome 1p36 microdeletion syndrome before I become pregnant?

How does someone get tested for chromosome 1p36 microdeletion syndrome?

The only way to see if you have chromosome 1p36 microdeletion syndrome is by genetic testing. Genetic testing is usually ordered by a doctor called a medical geneticist. A genetic counselor often helps the doctor. The doctor will do an exam to look for symptoms of the disorder. They will ask questions about the patient's medical history. They will also ask about the patient's family history. The doctor will order a genetic test if they think someone has chromosome 1p36 microdeletion syndrome. There is more than one genetic test that can be ordered. These tests are done on blood samples. The first test is called a chromosome analysis. Chromosomes are structures that hold our genetic information. A piece of chromosome number 1 is missing in chromosome 1p36 microdeletion syndrome. In a chromosome analysis, doctors look at the chromosomes to see if there are any missing pieces. If a piece of chromosome 1 is missing at location p36, then the patient has the disorder. The missing piece of chromosome might be too small to see on this test. Another test called a chromosome microarray can look for very small deletions. In this test, the patient's chromosomes are compared to a healthy set of chromosomes by a computer. If there is a piece missing on chromosome 1 at location p36, then the patient has chromosome 1p36 microdeletion syndrome. The computer can see very small deletions that can't be seen by eye. Talk to your doctor about testing for this disorder. Your doctor can refer you to a medical geneticist. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

Is there newborn screening for chromosome 1p36 microdeletion syndrome?

Chromosome 1p36 microdeletion syndrome is not checked for on newborn screening tests. Your doctor can order another blood test if they think your baby has this disorder. One test for this disorder is called a chromosome test or karyotype. Another test is called chromosome microarray. These tests are usually ordered by a doctor called a medical geneticist. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

Is there more than one test for chromosome 1p36 microdeletion syndrome?

There is more than one test for chromosome 1p36 microdeletion syndrome. Chromosomes hold all of our genetic information. In this disorder, a piece of a chromosome is missing. There are several tests for this disorder. They are the following:

  1. Chromosome analysis: This test is also called karyotyping or G-banding. This test looks at the chromosomes under a microscope. If a deletion is big enough, it can be seen with this test.
  2. Fluorescence in situ hybridization (FISH): This test uses special markers (probes) that can only attach to the chromosome 1p36 region. The probes are mixed in with the chromosomes. The probes light up under the microscope. If the 1p36 piece of the chromosome is missing, then it will not attach and nothing will light up.
  3. Chromosome microarray: This test is more detailed than the chromosome analysis. It can detect small chromosome deletions that can't be seen under the microscope. In this test, the patient's chromosomes are compared to a healthy set of chromosomes by a computer. The computer can tell if very small pieces are missing.

Talk to a genetic counselor to determine which test is best in your situation. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Who else in the family should be tested if someone is found to have chromosome 1p36 microdeletion syndrome?

Chromosome 1p36 microdeletion syndrome is inherited about 30% of the time. Genetic testing can be offered for family members of affected people. Testing should be offered to parents of an affected person. Sometimes, a parent has a chromosome problem that can lead to this disorder in their child. This problem is called a balanced translocation. In a balanced translocation, a person has all of their chromosomal material. However, it is in different places than it should be. The parent is not affected because all of their chromosomal material is present. When a person with a translocation has children, they have a higher chance to have a child with a missing piece of chromosome. Chromosome testing can be offered to the parents to see if they have this translocation. If one of the parents has a translocation, then their other children should be tested. Other children may also have a translocation or the missing chromosome piece. Every family is different. Meeting with a genetic counselor can be helpful. A genetic counselor can help determine who should be tested. To find a genetic counselor near you, visit the Find a Genetic Counselor tool on the National Society oGenetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

How will a genetic diagnosis of chromosome 1p36 microdeletion syndrome help my baby/child and my family?

A diagnosis of chromosome 1p36 microdeletion syndrome can help guide medical management. There are certain health problems that are seen in this disorder. If a person is confirmed to have the diagnosis, their doctor will know what problems to watch out for. This is called surveillance. This diagnosis can also help with getting educational or other services. A diagnosis can also help other family members know their chance to have a child with the same disorder. There may be testing for at risk family members. The type of doctor that usually treats this disorder is called a medical geneticist. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

How many laboratories in the United States perform genetic testing for chromosome 1p36 microdeletion syndrome?

Several laboratories offer genetic testing for chromosome 1p36 microdeletion syndrome. Genetic testing is typically ordered by a geneticist and/or genetic counselor. Your doctor or genetic counselor can help you choose a lab for testing. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Is there testing that can be performed during the pregnancy to see if a baby has chromosome 1p36 microdeletion syndrome?

There is testing that can be performed on a pregnancy to see if a baby has chromosome 1p36 microdeletion syndrome. There are two types of tests that can be done. One test is called a screening test. A screening test can't tell you if a pregnancy is affected. It just tells you if there is a higher chance than normal that the baby is affected. The other type of test is called a diagnostic test. A diagnostic test tells you if the baby is affected.

The screening test for chromosome 1p36 microdeletion syndrome is called non-invasive prenatal testing (NIPT). It can also be called cell free fetal DNA testing. In this test, a blood sample is taken from the mother. A pregnant woman has small pieces of her baby's DNA floating in her blood. These pieces of DNA are collected and tested. This test tells you if there is a higher or lower chance than normal for the baby to have certain disorders. If the test shows that there is a high chance, then a diagnostic test is offered.

If a mother or father has a higher chance to have a baby with chromosome 1p36 microdeletion syndrome, a diagnostic test can be performed on the pregnancy. These tests are done by taking a sample of the placenta or the fluid surrounding the baby. Chorionic villus sampling (CVS) is done by taking a small piece of placenta by inserting a needle through the vagina and cervix. It can also be done by inserting a needle through the stomach. Amniocentesis is done by taking a sample of the fluid that is around the baby. This is done by inserting a needle through the stomach. The samples contain genetic material from the baby. There are different tests that can be done on these samples. They are:

  • Chromosome analysis: This test is also called karyotyping or G-banding. This test looks at the chromosomes under a microscope. If a deletion is big enough, it can be detected with this test.
  • Fluorescence in situ hybridization (FISH): This test uses special markers (probes) that can only attach to the chromosome 1p36 region. The probes are mixed in with the chromosomes. The probes light up under the microscope. If the 1p36 piece of the chromosome is missing, then it will not attach and nothing will light up.
  • Chromosome microarray: This test is more detailed than the chromosome analysis. It can detect small chromosome deletions that can't be seen under the microscope. In this test, the patient's chromosomes are compared to a healthy set of chromosomes by a computer. The computer can tell if very small pieces are missing.

The CVS and amniocentesis are invasive. This means there is a small risk to the pregnancy when they are done. There is a risk for miscarriage. You should talk to a doctor or a genetic counselor about these risks. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Can I make sure my baby won't be affected with chromosome 1p36 microdeletion syndrome before I become pregnant?

Yes. There is an available technology called preimplantation genetic diagnosis (PGD). Chromosome 1p36 microdeletion syndrome can run in a family. Chromosomes are structures that hold our genetic material. If a person has chromosomes that are in the wrong order, they may have a higher chance to have a child with this disorder. When chromosomes are in the wrong order it is called a balanced translocation. If someone has a balanced translocation, they can have PGD to make sure their baby is not affected. In PGD, embryos are made in a laboratory using the mother's eggs and father's sperm. Embryos are a baby in the early stages of pregnancy. The embryos that are made can be tested for the disorder. The ones that don't have the deletion can then be put in the mother's uterus. To learn more about PGD, you can speak with a genetic counselor who specializes in preimplantation genetic diagnosis. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me