Down Syndrome in Children
Down syndrome is one of the most common and easily recognized genetic disorders. It is caused by abnormal cell division that involves the 21st chromosome pair of the 23 pairs of chromosome found in all normal human cells. There are three types of these abnormalities, which are non-disjunction, translocation, and mosaicism. Ninety five percent of children born with Down syndrome are a non-disjunction type which is three rather than two chromosome 21s. About three to four percent of cases are because of translocation which is chromosome 21 detaches and attaches to another chromosome. Mosaicism accounts for only one to two percent of births, which is an abnormal cell division with the normal 46 chromosomes
…show more content…
Its very important to know that some screening test may slightly increase the chance of a miscarriage. Tests in utero for identifying Down syndrome include amniocentesis, which is a needle inserted into the uterus and a sample of the amniotic fluid surrounding the fetus is taken out. Usually used within 14-16 week of pregnancy. This test is 99% accurate, but carries a 0.5 percent chance of miscarriage. Chorionic villus sampling (C.V.S.) is used by taking cells from the placenta through the mother's abdominal wall or cervix. Performed between tenth and twelfth week of pregnancy, this test is 98 percent accurate and carries a risk of limb deformities and a one to two percent chance of a miscarriage. Karyotyping can be used through the process in which a picture of chromosomal patterns is prepared (Genetic Disorders.p5). An ultrasound can identify any traits a fetus has such as shortened thighbones or gastrointestinal blockage that can be associated with Down syndrome, but not as accurate to be used as a substitute for C.V.S. or amniocentesis in detecting Down syndrome.
Before the 1970's Down syndrome wasn't diagnosed until birth or even later, but due to such early diagnosing and screening this has posed a major dilemma for families and physicians. It allows parents to decide whether or not the pregnancy should be terminated (exceptional child book p176).
The physical description of a
. Down syndrome is not a disease that someone catches and is not caused by difficulties during the pregnancy, it is a genetic condition. This condition is caused by the presence of an extra chromosome in the body’s cells and causes a redundant amount of proteins to be formed. All cells of the body derive from a single cell formed by the fusion of a father’s sperm and a mother’s egg. Each cell carries a nucleus full of genetic material known as genes. These genes are inherited from both the mother and father. Each cell normally contains 46 pairs of chromosomes. 23 chromosomes come from one parent and 23 from the other, hence the 46 pairs. When it comes to children with down syndrome, one of the chromosomes does not separate properly and so the
John Langdon Down was the first to write an accurate description of Down syndrome . Down syndrome is one of the most common disorders among children in America, which is why it is so well known. Down syndrome has three different types: trisomy 21, mosaicism, and translocation(1). When it comes to the different types trisomy 21 is the most common. This is when every cell has an extra chromosome 21 and babies with this type tend to have a wide variety of different symptoms. Mosaicism is the next common form of Down syndrome. When it comes to this type the individual has extra chromosome 21 in only some of their cells. Babies with mosaicism tend to have fewer symptoms. For translocation, the kids who have this only have one extra piece of chromosome
Often people who have disabilities or have family with such an issue look at screening as discrimination because Dr.’s are finding out whether the baby will be healthy or if it will have further issues. The families with such abnormalities continue to believe that it is wrong to conceive a child with disabilities and further abort it rather than continue. Opponents fear the result of aborting with screening procedures and thinks it expresses a side of negativity to people who are disabled. According to The New York Times, a mother of three, Amy Becker states, “I declined the bloodwork, amniocentesis, and declined to return the insurance calls to line me up with a nurse for my pregnancy”. Becker has a child with down syndrome, the oldest. The doctor’s assured Amy that “Penny”, the oldest, would have learning disabilities and development wouldn’t come easy. Penny was smart, and was able to tell small tales and sing songs about fairytale dreams. She was also able to at the age of two point out a man in distress in a book and want to help him. There are many forms of down syndrome and they can often lead to issues with internal organs such as the heart. According to the NIH, “almost one half of babies born with down syndrome have congenital heart disease”. Doctors also concluded that due to the abnormality that children with down syndrome have often lead to other issues such as
The etiology of Down syndrome is due to a genetic mutation within chromosome 21. There are three types of Down syndrome, which include Trisomy 21, Mosaic Down Syndrome, and Translocation Down Syndrome. Trisomy 21 occurs when there are three copies of chromosome 21 in each nucleus, instead of the usual two. This type of Down syndrome occurs 95% of the time. Mosaic Down Syndrome occurs 1% of the time and is characterized by some cells having three pairs of chromosome 21 and others having the normal two. This is caused by abnormal cell division after
In the past, Down syndrome had been considered one of the most devastating disabilities. There were people who believed that it this disability was a death sentence, and how aborting these children was actually a service. They believed that life would be so horrible for someone with down syndrome that it’s best to terminate the pregnancy. This condition can be seen in utero because it is a genetic disorder, and there is a mutation within the genetic code. This can be seen in-utero, and is one of the reasons people check on their child in the womb. There was nothing that could be done for these children, and that is why many believed that termination was the best option.
Down syndrome is a disease in which chromosome 21 has extra genetic material delaying the way a child develops mentally and physically.
Two of the main methods, or tests, used to tell whether a child has Down syndrome or not are a screening test and a diagnostic test. The screening test doesn’t give a for sure answer, but an educated guess, which is typically accurate. These screenings typically include a blood test, to measure the quantity of various substances in the mother’s blood, and an ultrasound, to be able to see if there are any noticeable physical features which are typical of a child with Down syndrome. The diagnostic test has two different procedures. There’s the chorionic villus sampling, CVS, and amniocentesis. Both of these tests are always accurate and can even distinguish which type of Down syndrome the child has if it has the disorder (Diagnosis). With these tests, there is a small chance of a miscarriage, but that typically isn’t an issue. If the tests aren’t taken into place before the child is born, the doctor can usually diagnose the child right after being born by relating its physical symptoms to the ones of Down syndrome. Once diagnosed with Down syndrome, the next step is treatment
Down syndrome is a chromosomal condition that affects 1in every 700 kids. Down syndrome is when a child has and extra copy of chromosome 21. Down syndrome has many ways of telling if the child has down syndrome, like physical features. You can also tell if a child has down syndrome based on how they act. There are different ways of obtaining down syndrome. Kids with down syndrome are no different than kids that were born with the normal set of chromosomes, they just act a little different and need a little bit more help.
Down syndrome is commonly known by the public as a disease that causes physical and mental disabilities in people. Down syndrome is known by the scientific community as a genetic disorder of the twenty-first chromosome. As a result of this genetic disorder other systems of the body are also affected, this includes mental and physical disabilities. Down syndrome “is a lifelong condition… that happens before birth” (WebMD, 2015). According to the National Down Syndrome Society one in every 691 babies are born with the condition (NDSS, 2015). In order to understand this condition it is
The article “Down Syndrome” reviewed by Dr. Mary Gavin, thoroughly explains the causes, affects and diagnosis of the condition. This genetic condition involves the individual gaining an extra chromosome, ending up with 47 instead of 46. A person with Down syndrome facial and bodily features will be distinctly unique, making it easy to characterize them from others. Consistent medical attention is crucial for a child with the condition, even if the child appears to have no significant health concerns. With out proper care, the child could develop pulmonary hypertension, worsened vision and hearing, seizures, asthma, infections etc. Prenatal screening
Down Syndrome is, as a rule, not an inherited condition. Down Syndrome may be because of Trisomy 21, which alludes to the state of having an additional duplicate of chromosome 21, which means three duplicates, rather than two, in every cell. In these cases, the "chromosomal variation from the norm happens as an irregular occasion amid the arrangement of regenerative cells" ("Down Syndrome",2016). This event is conceivable in either egg cells or sperm cells, yet it is well on the way to happen in egg cells, and it is the event of non-disjunction, a mix-up in the division of a cell, that causes a regenerative cell to contain an odd number of chromosomes ("Down Syndrome",2016). In like manner, Mosaic Down Syndrome is not an inherited condition.
Down syndrome is characterized as a chronic genetic chromosomal disorder which alters one’s cognitive growth, intellectual development, and physical characteristics. This extremely widespread condition is most prominently existent in human beings whose genetic makeup is composed of an additional copy of chromosome 21. Additionally, these human beings are known for acquiring 47 chromosomes rather than the conventional 46 chromosomes. This chromosomal abnormality is extremely common, yet highly spontaneous. To illustrate, the prevalence of Down Syndrome is exhibited as around
It's hard to believe a random error in cell division known as nondisjunction can be the reason for so many birth defects. This one mistake is the cause of 1 in 691 babies being born with what is known as Down Syndrome. In every cell in the human body, there is a nucleus. Typically there are twenty three chromosomes in each nucleus. Down Syndrome occurs when there is extra full or partial copy of chromosome 21. Down Syndrome is a chromosomal condition that causes low muscle tone, small stature, and a single deep crease across the center of the palm. Although, each person with Down Syndrome is a unique individual and may have these characteristics to different degrees.
Down syndrome is a congenital disorder arising from a chromosome defect, the chromosome causing the problems is Chromosome 21. This disorder affects about 1 in 700 births in the United States. Currently there are about 400,000 Americans that have Down syndrome, with approximately 6,000 babies are born with Down syndrome each year. The disorder forms during fertilization or soon after fertilization. Fertilization occurs when the sperm binds to zona pellucida, then the sperm undergoes acrosome reaction which will lyses a hole in zona pellucida, and then the sperm and egg membrane fuse. Once the membranes fuse, the sperms genetic material gets released and gets combined with the egg’s chromosomes, thus resulting in a 46 chromosome fertilized egg.
Down syndrome is a genetic disorder in which a person is born with an extra copy of chromosome 21. There are three genetic variations that cause Down syndrome: Trisomy 21, Mosaic Trisomy 21 or Translocation Trisomy 21. There are many ways in which theses disorders affect the body. Trisomy 21 occurs when an egg or sperm comes in with an extra copy of chromosome 21, then, once an embryo is formed and starts to develop, the chromosome is replicated in every single cell of the embryo. Trisomy 21 is the most common type of Down syndrome. About 92% of Down syndrome patients have this type. People with Trisomy usually have physical problems.