People with down syndrome has an extra chromosome in the 21st pair. The normal amount of chromosomes is 56 single chromosomes (23 pairs). A person with down syndrome has 57 chromosomes. Therefore, they look and act more different than people without the disorder. Instead of looking like their parents, people with down syndrome look more like other people who has down syndrome.
An individual with Down Syndrome has the presence of all or part of an extra 21st chromosome.
Down Syndrome is caused by extra genetic material on Chromosome 21. About half of the children of people who have Down Syndrome are born with Down Syndrome themselves. See the Related Linksbelow to view an article about the genetics of Down Syndrome.
What are the odds at 17 of having a baby with Down syndrome?
If you are worried or concerned then you should try and speak to a medical professional. There are tests and screenings available between 11 & 20 weeks; the results of these are not always conclusive. Speak to a doctor who will be able to advise you.
The male contributes about 5% of the risk, statistically.
The female contribution of risk increases with her age. A woman's statistical risk at age 20 is 1 in 1529, so a 17 year old should be safer - much less than 1/10 of 1%.
Since this disease is linked to accumulating damage to the parents egg and/or sperm, you should also consider personal exposure to mutagens/radiation or dietary deficiencies.
Oddly enough, immediately after a Down syndrome birth, a higher risk drops to about 1% for subsequent pregnancies, indicating some kind of repair or elimination of defective cells. This is the same risk faced by 40 year old women.
Why are females more likely to get Down syndrome than males?
Females are not more likely to get Down's syndrome.
Down's syndrome is slightly more common among males with most studies showing about 106 to 125 boys for every 100 girls.
In some studies younger mothers, who have a lower total chance of having a baby with Down's syndrome, have a more skewed male:female ratio when they do (as high as 173 boys for every 100 girls).
No one is sure why boy are affected more often.
Can you have the appearance of Down syndrome but not actually have the syndrome?
Who really cares if a child looks normal or not!? God created us all the same, and we shouldn't treat each other differently just because we have a little disability! Calling a disabled child "dumb" or a "retard" is not going to change their life and is only going to hurt their feelings, so why bother?! But the truth is, a child with Down Syndrome is not going to look regular without some major surgery. They will need facial reconstruction, though. But even if you choose to have plastic surgery performed on your child with Down Syndrome or not, just remember to love and take care of him or her. It's the best gift you can give your child, and with the right therapy and attention, your child (and you!) can learn to live a normal, neurotypical life.
What organelles are effected when having Down syndrome?
The extra chromosome 21 affects almost every organ system and results in a wide spectrum of phenotypic consequences.
Congenital heart defects - Almost half of affected patients have congenital heart disease, including ventricular septal defect and atrioventricular canal defect.
Abnormal physiologic functioning affects thyroid metabolism and intestinal malabsorption.
There is an increased risk of obesity.
Frequent infections are presumably due to impaired immune responses, and the incidence of autoimmunity, including hypothyroidism and rare Hashimoto thyroiditis, are increased.
About 5% of patients with Down syndrome have gastrointestinal (GI) manifestations, includind duodenal atresia, hirschsprung disease, and celiac disease. Many patients with trisomy 21 have otorhinolaryngologic manifestations, including hearing loss and recurrent ear infections. About 60% of patients have ophthalmic manifestations.
Can Down syndrome be detected before its symptoms appear?
No Actually there is testing to determine if your child has rett syndrome, although prior to 1999 they were no tests available. Fortunately there have been great strides in genetic testing and with advanced medical research and the discovery of the Mecp2 gene by Huda Zoghbi and her team of lab research assistants, the situation has changed. Currently there is a prenatal test that can be taken to determine if the fetus tht you carry has CDKL5-Related Atypical Rett Syndrome as well as MECP2-Related Disorders. Here is the links to the laboratories that currently provide genetic testing for rett syndrome: http://www.genetests.org/query?testid=251630 http://www.genetests.org/query?testid=21594
What research is being done on Down syndrome?
See the Related links below to the Down Syndrome Research Foundation, and to the National Down Syndrome congress.
Scientists have made a mouse model of Down syndrome, in order to see how cognition and memory are affected by extra copies of 21st chromosome. They are hopeful that in 10 years, a drug will help people with Ds think and remember NORMALLY.
Also Dr Jim Paddy Baggot has done studies of how vitamin B may help ameliorate the effects of Down syndrome on a developing baby in the womb.
Dr William Mobley of Univ San Diego says it has never been a more promising time for Down syndrome research. Down syndrome research and treatment foundation funds his work.
If two people with Down syndrome had a baby would it have Down syndrome too?
Yes two non-Down syndrome parents can have a Down syndrome child. This is the most common situation, mainly because very few Down syndrome affected people are parents. Few Down Syndrome affected people become parents, partly because of reduced fertility associated with the syndrome, partly because of an increased risk of passing on the syndrome (very roughly from 1 in 800 to 1 in 3), and partly because of societal restrictions.
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Also, the parent(s) who has 1 down syndrome gene will be passed onto the child
== == Trisomy 21 is more of a chromosome abnormality/birth defect than a disease. It is also called Down syndrome. You cannot "catch" it; it is not infectious. According to statistics, women over 35 have a higher chance of bearing a baby with Trisomy 21 than do younger women. The theory is that, as we age, our chromosomes become "sticky" during the process of division. The amount of the chromosome that breaks off determines how functional or affected the offspring will be.
Although I have a bachelor's degree in genetics, you may want to get a more in-depth answer from a doctor or a genetic counselor.
Does down syndrome affect men and women equally?
There are studies (Am J Epidemiol 1997; 145: 134-47) indicating that Hispanics possibly have a higher incidence at maternal age under 40. The question is as always, how reliable are those numbers.
Is Down syndrome caused by a recessive gene?
Down syndrome is caused by a third copy on chromosome 21 and is present at conception or shortly after. It is mostly a random (and relatively common) occurrence, unless it is of the translocation type which is rare and genetic.
Can a child with down syndrome live as long as a normal person?
Yes. Along with the Down they often have other physical problems such as enlarged hearts and immune problems, so they often die of something other than Down syndrome directly. Many die in their teen or early adult years.
What are the causes and risk factors of down syndrome?
The causes and risks factors are maternal age. Have babies at early age as the risks increases with age. About 1:2000 live births in age 20 to 1:300 at age 35 to 1:40 at age 45.
Is it legal for people with down syndrome to marry?
No! If someone has Down syndrome, he or she was born with it. It happens when the fetus develops an extra chromosome.
How many copies of Chromosome 21 are there in someone who has Down syndrome?
Down syndrome is also known as "Trisomy 21" - a reference to the fact that someone with Down syndrome has 3 pairs of chromosomes 21.
Can you have a test for Down syndrome if you are 30 weeks' pregnant?
Yes, you can have an elective amniocentesis where they insert a needle into the womb and withdraw some fluid that contains cells from your baby. These cells can then be studied to examine the DNA in them to determine whether the baby has Down syndrome or not.
You should carefully consider what might happen if the result is positive. As you may be aware, you are in the third trimester and, in this late stage of pregnancy, many countries will not offer elective terminations past this date.
You should consult a qualified medical practitioner if you are concerned.
Does down syndrome male has a normal sperm?
Males with Down syndrome usually do not father children, while females have lower rates of fertility relative to those who are unaffected. Fertility is estimated to be present in 30–50% of women. The poor fertility in men is thought to be due to problems with sperm development; however, it may also be related to not being sexually active
What is the cause of Down Syndrome during meiosis?
Down's Syndrome is caused due to the presence of an extra 21st chromosome, resulting in 3 sets of 21st chromosome instead of just 2. This is because during Anaphase II of Meiosis II non-disjunction occurs and instead of one 21st chromosome going into each gamete, both go into one of the gametes and none goes into the other. When a normal gamete fuses with the gamete with an extra21st chromosome, it forms a zygote with 3 sets of 21st chromosome instead of 2 and that is known as Down's Syndrome.
Can children with Down syndrome learn to read?
* Yes; my sister's friend has Down syndrome and he is learning Italian.
* People with Down syndrome can have widely varying levels of disability. Many are quite high functioning and are very capable of learning other languages. That said, one of the early developmental delays that manifest in Down syndrome toddlers is typically communication and speech problems. This is partly due to an anatomically caused difficulty with use of their tongues and partly because it is just one of the slower developing skills in many Down syndrome children. They can be much more proficient in sign language than in verbal language -- especially when just learning to communicate -- and it is often their first language.
How many people with Down syndrome can drive a car?
If the person obtains a driver's license, he or she is legally allowed to drive.
Given that there are various levels of Down syndrome, the ability to pass the testing requirements will vary from person to person. They will have to pass the requisite tests for their jurisdiction. Many tests allow for help for those individuals that have problems reading, due to disabilities or language issues.
They may be required to have a statement from their physician that there are no impairments to their ability to function as a safe driver. Most states in the US have established a review board for medical conditions.
Which chromosome is affected in Rubinstein-Taybi syndrome?
Rubinstein-Taybi syndrome is caused by a non-functional copy of the BREP binding protein gene (either by mutation or deletion) on chromosome 16.
How many people in north America have down syndrome?
There are approximately7,222,222 people with down syndrome in the world ( if you compare the stat
1 in every 800-1000 births to the world's population of 6.5 billion).
Do males carry Down syndrome gene?
NONDISJUNCTION TYPE All cases of "regular" Down Syndrome are inherited from one of the parents. A Trisomy in offspring results from a glitch during meiosis in the parents. Meiosis is the creation of the gametes- the egg or the sperm. If one gamete has two copies of any chromosome instead of the typical one copy, the baby will end up with a trisomy - 3 of that chromosome rather than the typical 2 (one copy of each chromosome comes from the egg, one copy from the sperm). In Down syndrome we are talking about a trisomy of the 21st chromosome.
The parent donating one extra 21st chromosome can be the mother, or more rarely, the father.
MOSAIC TYPE
In Mosaic Down syndrome (about 1 % of all cases of DS), the extra 21st chromosome was not inherited from a parent, but rather created during mitosis - cellular duplication - of the early embryo after conception. Some cells in a person with Mosaic type will be typical and some cells contain the extra 21st chromosome. A karyotype test can tell us what type Down syndrome a person has.
TRANSLOCATION TYPE:
There is also a type that accounts for a small percentage of Down syndrome occurrences which is like NDJ type, also inherited: Translocation Down Syndrome. In these translocation cases, the mother or father is a balanced carrier of the translocation, which means he or she has some rearranged genetic material, but no extra genetic material (which is where the symptoms of Down Syndrome come from, the extra proteins created from the "Critical Region" of the 21st chromosome such as DYRK, APP, SOD-1 and more). In a parent with undiscovered Translocation DS, all or part of their 21st chromosome (which is tiny, and easily dislocated) has attached itself to the end of another chromosome and expresses itself normally. But after meiosis, some egg or sperm cells now carry and extra copy of #21 chromosome. After fertilisation, there are 3 copies present.
A balanced carrier has no signs or symptoms of Down syndrome themselves, but he or she can pass the translocation on to children.
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