Is Down syndrome caused by translocation or nondisjunction?
Translocation Down syndrome: This type accounts for a small percentage of people with Down syndrome (about 3%). 2 This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.
What chromosome is affected in Down syndrome?
Types of Down Syndrome
- Trisomy 21: About 95% of people with Down syndrome have Trisomy 21. ...
- Translocation Down syndrome: This type accounts for a small percentage of people with Down syndrome (about 3%). ...
- Mosaic Down syndrome: This type affects about 2% of the people with Down syndrome. 2 Mosaic means mixture or combination. ...
What are the problems with Down syndrome?
What conditions or disorders are commonly associated with Down syndrome?
- Hypotonia (poor muscle tone)
- Problems with the upper part of the spine
- Gum disease and dental problems
What are the causes of Down syndrome?
Tevlin has Down syndrome, in which an individual is born with an extra copy of the 21st chromosome, leading to some cognitive and developmental disability. She wants to prove to the public that people with Down syndrome can do it all — and she's flashing her triple-threat status as an actor, singer and dancer to prove it.
What are the symptoms of translocation?
In most cases , there are no symptoms or visible signs of a Robertsonian translocation. Depending on where in your DNA the translocation occurs, it's very likely that you won't experience any side effects of your DNA chain being atypical.
Is Down syndrome related to translocation?
Yes. Translocation Down Syndrome is the only type of Down Syndrome that can be passed down from a parent who does not have features of Down Syndrome. If a parent has balanced translocation, there is an up to 15% chance of having another child with Down Syndrome.
How common is translocation Down syndrome?
Translocation Down syndrome: This type accounts for a small percentage of people with Down syndrome (about 3%). This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.
Is there a cure for translocation Down syndrome?
There's no specific treatment for Down syndrome. But there is a wide range of physical and developmental therapies designed to help people with Down syndrome reach their full potential. The earlier you start them, the better. Each child will have different needs.
What is the difference between Down syndrome and translocation Down syndrome?
The extra copy of the # 21 chromosome is what causes the health problems that are associated with Down syndrome. In translocation Down syndrome, the extra 21 chromosome may be attached to the #14 chromosome, or to other chromosome numbers like 13, 15, or 22.
What does translocation cause?
A genetic change in which a piece of one chromosome breaks off and attaches to another chromosome. Sometimes pieces from two different chromosomes will trade places with each other. Translocations may lead to medical problems such as leukemia, breast cancer, schizophrenia, muscular dystrophy, and Down syndrome.
Are translocations inherited?
A translocation is either inherited from a parent or happens around the time of conception. A translocation cannot be corrected – it is present for life. A translocation is not something that can be “caught” from other people. Therefore a translocation carrier can still be a blood donor, for example.
Which parent carries the Down syndrome gene?
Being carriers of the genetic translocation for Down syndrome. Both men and women can pass the genetic translocation for Down syndrome on to their children. Having had one child with Down syndrome.
Can you have a baby with balanced translocation?
Natural conception and live birth is possible in cases of balanced translocation, but those with the condition may have more difficulty conceiving and are at a greater risk of recurrent miscarriage than those without it.
Can folic acid prevent Down syndrome?
April 17, 2003 -- Taking folic acid supplements before and during early pregnancy may not only help prevent neural tube defects in babies, but it may also reduce the risk of Down syndrome.
What is the average life expectancy of a child with Down syndrome?
Over 6,000 babies are born with Down syndrome in the United States each year. As recently as 1983, a person with Down syndrome lived to be only 25 years old on average. Today, the average life expectancy of a person with Down syndrome is nearly 60 years and continuing to climb.
Can stress cause Down syndrome?
Down syndrome, which arises from a chromosome defect, is likely to have a direct link with the increase in stress levels seen in couples during the time of conception, say Surekha Ramachandran, founder of Down Syndrome Federation of India, who has been studying about the same ever since her daughter was diagnosed with ...
How many people with Down syndrome have translocation?
An extra copy of chromosome 21 causes the differences we see in people with Down Syndrome. About 3 – 4% of people with Down Syndrome have translocation Down syndrome.
What is the chance of having another child with Down syndrome?
If a parent has balanced translocation, there is an up to 15% chance of having another child with Down Syndrome. A genetic counselor or doctor who is a Down Syndrome expert would be happy to discuss this with you before any future pregnancies.
What does it mean when you have an extra copy of chromosome 21?
If the extra copy of chromosome 21 is inherited from a parent in the egg or sperm, it means that the parents “carry” this type of Down syndrome. These parents are said to have a “balanced translocation.”. Balanced translocation happens when the correct amount of genetic material is present in the wrong location.
What happens when a chromosome is transferred to another chromosome?
Translocation Down syndrome happens when an extra copy of chromosome 21 is attached to another chromosome. This is then present in all cells of the body. Chromosomes contain all of the genetic information that tells our body how to grow and function.
Can you get pregnant with Down syndrome?
People with balanced translocations do not have any features of Down Syndrome. However, it is possible that they may have trouble getting pregnant. Even though carriers have the right amount of genes, the egg or sperm may have either too much or too few genes. This may cause an unexpected miscarriage.
Can you tell if you have translocation Down syndrome?
People with translocation Down syndrome still share the same health issues and learning problems with people with other types of Down Syndrome. Without doing a blood test, it is not possible to tell the difference between people with translocation Down syndrome and people with other types of Down Syndrome. All people with Down syndrome have some ...
What is it called when a translocation is found in a child?
This is called trisomy 21. Whenever a translocation is found in a child, the parents’ chromosomes are looked at to find out whether the translocation was inherited or not. If one parent has the translocation chromosome, then the healthcare provider knows the baby inherited the translocation from that parent.
What happens if you have a balanced translocation?
Parents with balanced translocations may: 1 Have trouble getting pregnant 2 Suffer miscarriages 3 Have an increased chance of having a child with health problems
What is the extra 21 chromosome?
The genetic material from the extra 21 chromosome is what causes the health problems that are caused by Down syndrome. In translocation Down syndrome, the extra 21 chromosome may be attached to the 14 chromosome, or to other chromosome numbers like 13, 15, or 22. In some cases, two 21 chromosomes can be attached to each other.
Can a parent predict translocation?
This is not something the parent can control or predict. The chance depends on the type of chromosome rearrangement and which chromosomes are involved. There is another important thing to remember when a parent is found to have a translocation.
Can a parent be a balanced translocation carrier?
That person can also be a balanced translocation carrier. Parents with balanced translocations may: The parent can donate the right amount of chromosomes to a pregnancy. However, that parent also has a risk of donating too much or too little genetic material to a pregnancy.
How many chromosomes are in a translocation Down syndrome?
In translocation Down syndrome, the extra 21 chromosome may be attached to the 14 chromosome or to other chromosome numbers like 13, 15, or 22. In some cases, two 21 chromosomes can be attached to each other. A small number of babies born with Down syndrome have translocation Down syndrome.
What is the cause of translocation?
Translocation Down syndrome is a type of Down syndrome that is caused when one chromosome breaks off and attaches to another chromosome. In this case, there are three 21 chromosomes, but one of the 21 chromosomes is attached to another chromosome. The genetic material from the extra 21 chromosome is what causes the health problems ...
How do you know if a translocation is inherited?
If one parent has the translocation chromosome, then the healthcare provider knows the baby inherited the translocation from that parent.
What is the name of the chromosome that a child has when they have Down syndrome?
This is called trisomy 21. Whenever a translocation is found in a child, the parents’ chromosomes are looked ...
What happens if you have a balanced translocation?
Parents with balanced translocations may: 1 Have trouble getting pregnant 2 Suffer miscarriages 3 Have an increased chance of having a child with health problems
Can a parent predict translocation?
This is not something the parent can control or predict. The chance depends on the type of chromosome rearrangement and which chromosomes are involved. There is another important thing to remember when a parent is found to have a translocation.
Translocation down syndrome symptoms
People with translocation Down syndrome still have an extra copy of a large part of chromosome 21. Their clinical features or ability levels of translocation Down syndrome are no different from those in a child with regular trisomy 21.
How is translocation Down syndrome diagnosed?
Translocation Down syndrome can only be diagnosed with a blood test, because it is not possible to tell the difference between people with translocation Down syndrome and people with other types of Down syndrome.
What is the treatment for translocation Down syndrome?
Treatment for Down syndrome is based on the person’s physical problems and intellectual challenges. Many babies who have Down syndrome do not have good muscle tone, which makes it harder for them to roll over and walk. Physical therapy can help with these problems.
What is the extra chromosome in Down syndrome?
Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’. Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.
Why can't people tell the difference between the two types of Down syndrome?
People often can’t tell the difference between each type without looking at the chromosomes because the physical features and behaviors are similar. Trisomy 21: About 95% of people with Down syndrome have Trisomy 21. 2 With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.
Why is there an extra chromosome 21?
Causes and Risk Factors. The extra chromosome 21 leads to the physical features and developmental challenges that can occur among people with Down syndrome. Researchers know that Down syndrome is caused by an extra chromosome, but no one knows for sure why Down syndrome occurs or how many different factors play a role.
What is the name of the test that looks for changes in the chromosomes that would indicate a Down
Amniocentesis —examines the amniotic fluid (the fluid from the sac surrounding the baby) Percutaneous umbilical blood sampling (PUBS)—examines blood from the umbilical cord. These tests look for changes in the chromosomes that would indicate a Down syndrome diagnosis.
What is a diagnostic test for Down syndrome?
Diagnostic tests are usually performed after a positive screening test in order to confirm a Down syndrome diagnosis. Types of diagnostic tests include: Chorionic villus sampling (CVS)—examines material from the placenta.
What tests can be used to detect Down syndrome?
There are two basic types of tests available to detect Down syndrome during pregnancy: screening tests and diagnostic tests. A screening test can tell a woman and her healthcare provider whether her pregnancy has a lower or higher chance of having Down syndrome.
How many babies have Down syndrome?
Down syndrome remains the most common chromosomal condition diagnosed in the United States. Each year, about 6,000 babies born in the United States have Down syndrome. This means that Down syndrome occurs in about 1 in every 700 babies. 1.
