Chromosome 1p36 deletion 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.

The usual abbreviation for chromosome 1p36 microdeletion syndrome is Del(1)(p36). Del means deletion. The (1) shows which chromosome has a deletion. (p36) shows what part of the chromosome is deleted. A genetic counselor can explain more about chromosomes and how they are structured. 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.

People with chromosome 1p36 microdeletion syndrome are affected differently. Almost all will be dependent on others for most activities their whole lives. They will need help with most day to day tasks. They will need medical care their whole lives. People with this disorder do survive into adulthood. Genetics clinics can help organize healthcare for affected people. They can make recommendations for support services. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website.

Chromosome 1p36 deletion occurs when a piece of genetic material is missing or deleted. In this disorder, the missing piece is on chromosome number 1. There is a difference between a terminal and interstitial chromosome 1p36 microdeletion. Terminal means end. This type of deletion goes all the way to one end of the chromosome. An interstitial deletion does not affect the end of the chromosome. It affects the inner part of the chromosome. 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.

Chromosome 1p36 microdeletion syndrome is a disorder that causes many birth defects. It also causes intellectual delay. People with this disorder usually have many symptoms. These symptoms can include

Some of the genes that may be deleted in chromosome 1p36 deletion syndrome are: MMP23B, GABRD, SKI, PRDM16, KCNAB2, RERE, UBE4B, CASZ1, PDPN, SPEN, ECE1, HSPG2, and LUZP1. These genes have many different functions. MMP23B is involved in skull formation. GABRD is involved in brain development. SKI is involved in brain development, skeletal development, and heart development. PRDM16 is involved in heart rhythm problems. KCNAB2 is involved in seizures. RERE is involved in brain, heart, kidney, eye, and other organ development. UBE4B is involved in heart development. CASZI Is involved in heart development. PDPN is involved in heart development. SPEN is involved in heart and brain development. ECE1 is involved in heart and facial development. HSPG2 is involved in skeletal and heart development. LUZP1 is involved in heart, brain, and facial development. Talk to a genetic counselor to learn more about the functions of these genes. 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.

Genital differences are seen in some people with chromosome 1p36 microdeletion syndrome. Genitals are the sex organs. Genital differences in males can include:

Facial differences that can be seen in chromosome 1p36 microdeletion syndrome include:

Many different eye problems can be seen in chromosome 1p36 microdeletion syndrome. They can include:

Every chromosome has two arms. These are the "p" arm and the "q" arm. The "p" arm is the short arm (p comes from the French word petit meaning small). The "q" arm is the long arm. The "p" and "q" arms are separated by a structure called the centromere. "36" is the specific location on the short arm of chromosome 1 where the missing piece (deletion) is located. A genetic counselor can explain more about chromosomes and how they are structured. 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.

Chromosome 1p36 microdeletion syndrome can cause behavior problems. Everyone with this disorder is different. Each person can have different problems. These problems can include:

Chromosome are structures in our cells that contain our genetic information. In chromosome 1p36 microdeletion syndrome a piece of chromosome 1 is missing or deleted. The symptoms of this disorder depend on which genes are missing. The size of the deletion can vary. Some people have larger deletions than others. Some of the symptoms include:

People with chromosome 1p36 microdeletion syndrome should see medical specialists. The types of doctors they need to see depend on their health problems. Not all affected people have the same health problems. People with this disorder may need to see the following types of specialists:

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 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 .

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:

https://clinicaltrials.gov/ These are studies receiving US government funding. Some studies are supported by private industries.
In Europe, the EU Clinical Trial Register performs a similar service.
To learn about clinical trials sponsored by private sources, you can contact www.centerwatch.com

There is no cure for chromosome 1p36 microdeletion syndrome. People with this disorder are missing some of their genetic information. It is not possible to replace this information. Treatment is based on which symptoms a patient has. Special learning programs are useful to help with mental delays. Affected people may need to learn some sign language to communicate. They may need physical therapy to help with motor skills. Some people need medications for seizures. People with this disorder can have problems eating. They may need special equipment to help them eat. Medications and surgery may be needed if there are heart problems. Hearing aids may be needed for hearing loss. Other physical problems will need standard treatments if they develop. Symptoms vary for affected people, so not everyone will need the same treatments. A medical geneticist can help to arrange the right treatments. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website.

Not all people with chromosome 1p36 microdeletion syndrome are affected the same. There are many different problems associated with this disorder. Not everyone has all of the problems. The problems can vary from person to person. Some people have more severe problems than others. It is difficult to predict which health problems a person will have. That is why they need to be monitored for the problems associated with this disorder. Talk to a genetic counselor to learn more about the symptoms of this disorder. 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.

Chromosome 1p36 deletion syndrome is more common in girls than boys. There are twice as many affected females as males. The reason there are more affected girls is not known. Talk to a genetic counselor to learn more about the frequency of this disorder. 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.

If someone has chromosome 1p36 microdeletion syndrome, tell their main doctor. Their doctor should know that this disorder can affect many parts of the body. Referrals to many specialists will be needed. Their doctor should make sure to check their growth. They should also do thyroid function screens. Their doctor should know that developmental delay and intellectual disability are part of this disorder. Early treatment and supportive services will be needed as soon as possible. Their doctor can refer them to a medical geneticist. Medical geneticists can help organize their care. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

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 .

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.

There is no cure for chromosome 1p36 microdeletion syndrome. Treatment is based on which symptoms a patient has. Special learning programs are useful to help with mental delays. Affected individuals may need to learn sign language to communicate. They may need physical therapy to help with motor skills. Some people need medications for seizures. People with this disorder can have problems eating and may need special equipment to help them eat. Medications and surgery may be needed if there are heart problems. Hearing aids may be needed for hearing loss. Other physical problems will need standard treatments if they develop. Symptoms vary for affected people, so not everyone will need the same treatments. A medical geneticist can help to arrange the right treatments. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

Most cases of chromosome 1p36 microdeletion syndrome are not inherited. These are called "de novo" cases. In these cases, there is no family history. The chromosome deletion happens by itself while the egg or sperm are being made. Sometimes it happens in early development. There is nothing parents can do to cause this deletion. There is nothing parents can do to prevent this deletion. It happens at random.
Chromosome 1p36 microdeletion syndrome is inherited about 30% of the time. Sometimes, a parent has a chromosome problem that can lead to a chromosome 1p36 deletion in their child. This type of problem is called a balanced translocation. In a balanced translocation, a person has all of their chromosomal material, but it is in different places than usual. The parent is not affected because all of their chromosomal material is present. But, when a person with a translocation has children, they are at an increased risk to have a child with too much (duplication) and/or too little (deletion) chromosomal material. Talk to a genetic counselor to learn more about translocations and the risk of passing it on to children. 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.

All people with chromosome 1p36 microdeletion syndrome have learning problems (intellectual disability). Most people (90%) have severe learning problems. Some people (10%) have mild or moderate learning problems. Learning problems are a hallmark of this disorder. Some people with this disorder also have seizures. People with seizures that are not controlled may have a harder time learning. People with this disorder will need support services. They will also need special education. Talk to a genetic counselor to learn more about the learning problems seen in this disorder. 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.

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 .

Genes are instructions that tell our bodies how to grow and develop. They are packaged onto structures called chromosomes. Everyone has two copies of each chromosome. One copy is inherited from your mother and one copy is inherited from your father. Because everyone has two copies of chromosome 1, everyone has two copies of each gene on chromosome 1. When someone has chromosome 1p36 microdeletion syndrome, they are missing some of the genes on one copy of chromosome 1. They only have one copy of each gene in this region instead of the normal two. The genes on this part of chromosome 1 have many important roles in the body. When these genes are deleted, the body is missing some of its instructions. This causes health problems. The types of problems depend on which genes are deleted and what their roles are in development. Talk to a genetic counselor to learn more about the role of genes in the body. 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.

Clinical research can be found on the following:

Chromosome 1p36 microdeletion syndrome is rare. That means that there are not usually clinics that specialize in just this disorder. The main doctors who treat this disease are called medical geneticists. People with this disorder have many different health problems that affect different parts of their body. This means that medical geneticists often work with different types of doctors to treat this disorder. They can help direct you to the types of doctors you need to see. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

About 1 in 5,000 to 1 in 10,000 people are born with chromosome 1p36 microdeletion syndrome. There may be even more affected people. Some people with this disorder have probably not been diagnosed. Their doctors may not be familiar with the disorder. There are twice as many girls as boys with the disorder. A genetic counselor can help you understand the chance to have a child with this disorder.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.

Hearing loss is seen in 47-82% of people with chromosome 1p36 microdeletion syndrome. Sensorineural is the type of hearing lost that is seen the most. There is damage to the inner ear in this type of hearing loss. Not all babies with the disorder have hearing loss. Symptoms vary. Talk to a genetic counselor to learn more about the symptoms of this disorder. 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.

About 40% of people with chromosome 1p36 microdeletion syndrome have skeletal problems. These problems can include:

Heart problems are seen in about half of people with chromosome 1p36 microdeletion syndrome. These problems occur when the heart does not develop the right way. Sometimes the heart does not beat correctly. Some of the heart problems seen in this disorder are:

Most (72%) babies with chromosome 1p36 microdeletion syndrome have trouble swallowing. This can happen for different reasons. Some of the causes include:

Brain abnormalities are seen in most people (88%) with chromosome 1p36 microdeletion syndrome. These problems occur when the brain does not develop the right way. Brain problems can include:

About 75% of people with chromosome 1p36 microdeletion syndrome cannot speak. They may be able to say a few words. Each person with this condition is different. They may be able to learn to use some sign language. It is important that speech therapy services are received as soon as possible. Earlier treatment leads to better outcomes. People with this disorder can have their care coordinated in a genetic services clinic. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

No one with chromosome 1p36 microdeletion syndrome has been reported to have a child. If a person with this disorder could have a child, then their child would have an increased chance to have the same disorder. A genetic counselor can talk about the risks of passing on this disorder. 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.

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.

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.

There are other names for chromosome 1p36 microdeletion syndrome. They are the following:

There are many genes in the chromosome 1p36 region that may cause health problems when 1 copy is deleted. These include:

There are support groups for chromosome 1p36 microdeletion syndrome. See the list below for contact information.

1p36 Deletion Support & Awareness
Address: 906 NE Greenwood Ave.
Bend, OR 97701
Email Address: [email protected]
Website: http://www.1p36dsa.org

Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton FL 33429-0724
Phone: 561-395-4252 (Family Helpline)
Email: [email protected]
Website: www.chromodisorder.org

Unique: The Rare Chromosome Disorder Support Group
G1 The Stables
Station Road West
Oxted Surrey RH8 9EE
United Kingdom
Phone: +44 (0) 1883 723356
Email: [email protected] or [email protected]
Website: www.rarechromo.org
Link for a pamphlet on chromosome 1p36 microdeletion syndrome at: http://www.rarechromo.org/information/Chromosome%20%201/1p36%20deletions%20FTNP.pdf

There are other genetic conditions that are similar to chromosome 1p36 microdeletion syndrome. These include the following:

Not all chromosome 1p36 microdeletions are the same. They can be different sizes. The size of the deletion does not always matter. Some people with small deletions have the same features as people with large deletions. Talk to a genetic counselor to learn more about chromosome deletions. 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.