Down Syndrome
Have you ever been in a situation where you were confronted by a child who has Down Syndrome and were unsure of how to act around that child? I'm sure many of us have experienced the awkwardness that accompanies such a situation. Many people feel guilt or pity for these children, I believe these reactions result from a lack of knowledge about the condition. Which is why I have chosen this topic.
Down Syndrome is a condition that cannot be physically passed on from one person to the next. It is a genetic disorder that is inherited through our parents when something goes wrong during pregnancy. As a result, they have a combination of features typical of Down Syndrome, including some degree of cognitive
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The hands are often broad and the fingers short. The feet are compact with a gap between the first and second toe, and their hair is soft and sleek. Such persons are also subject to congenital heart defects, many of which can be corrected surgically. They are also more likely to develop leukemia than other members of the general population.
There are three common types of Down Syndrome, the most common one being trisomy 21, which is found in about 95% of people with Down Syndrome. During pregnancy the formation of the egg or sperm, from a woman's or a man's pair of chromosomes normally split, so that only one chromosome is in each egg or sperm. In trisomy 21, the 21st chromosome pair does not split and a double-dose goes to the egg or sperm. The second type is known as translocation, found in about 3% to 4% of people with Down Syndrome. With this type an extra part of the 21st chromosome gets "stuck" onto another chromosome. The third type, mosaicism, is found in about 1% to 2% of people with Down Syndrome. With this type an extra 21st chromosome is found in only some of the cells. There are two tests that can be done to detect if the child you are carrying has any type of Down Syndrome, they are diagnostic and screening tests. A diagnostic test samples fetal cells and gives a definitive diagnosis. This test is usually done between 14 and 18 weeks of pregnancy. Although fairly safe, there is a small risk
Jane O'Brien: (In a comforting voice) First, calm down, Miss Anderson. I know it’s hard for you to hear your baby has Down syndrome but please take a deep breath, I will explain everything you need to know. First of all, Down Syndrome is a genetic disorder that involves birth defects, intellectual disabilities, and characteristic facial features. Additionally, it often involves heart defects, visual and hearing impairments, and other health problems. if you thinking what is genetic disorder is. Genetic disorder is altered or faulty gene or set of genes. The four broad groups of genetic disorders are single gene disorders, chromosome abnormalities, mitochondrial
A mental Illness refers to a wide range of mental health conditions — disorders that affect your mood, thinking and behavior. Downs syndrome is a congenital disorder arising from a chromosome defect, causing intellectual impairment and physical abnormalities including short stature and a broad facial profile. It arises from a defect involving chromosome 21. Down syndrome is random and it can affect anyone. There is no cure and no precautionary steps. Down syndrome affects millions of people each year. With research we can find new ways to treat this disease and help the ones who are affected.
As a child, Down syndrome was a part of my everyday life. I was watched after every day for the first ten years of my life by a women who was also looking after her sister who had Down syndrome. To me it was nothing unusual. It wasn’t until about eighth grade that I realized that to other people it wasn’t normal, it had a negative connotation. Growing up around a person who has Down syndrome made me see things differently than others. Once I realized not everyone else’s perspectives were the same as mine I became really aware of how others treated and reacted to people with Down syndrome. Its years later and I came across a story told by a women named Bethany Van Delft about Down syndrome.
Down syndrome occurs by nondisjunction. Nondisjunction is the failure of a pair of chromosomes to separate during egg, or sperm, formation. The embryo ends up with three copies of chromosome 21 when the defective chromosome’s egg joins with a normal sperm
. 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
mother could have a Down Syndrome baby even though there was never any sign of
There are three types of types of Down syndrome, with the most prevalent one being Trisomy 21 (www.ndss.org). The other two are Translocation
Down syndrome doesn’t just show up during your life, you’re not going to just start noticing you have Down syndrome in the middle of your life or be diagnosed with it later on. You’re born with it; you have no way to get rid of it at any time. You can’t change it. Down syndrome is a chromosomal condition that is linked to intellectual disability. Each human should have 46 chromosomes, 23 from the father, and 23 from the mother. But whenever you have a child with Down syndrome they are born
Down syndrome is a birth defect caused by a genetic disorder that affects 350,000 people in the United States. It is caused by abnormalities in the genes and is not inherited, meaning that parents do not pass this onto their children. Genetics is the study of heredity or how certain traits are passed from parents to their children. Genes are the basic unit of heredity. Cells are the building blocks of your body and each one of us has more than 100 trillion cells. Our genes are located in chromosomes. Each cell in your body contains 46 chromosomes or 23 pairs. In a person with Down syndrome, there are 47 chromosomes. In 1956, a French researcher named Jerome Lejeune used a new powerful microscope to view human strands of DNA. DNA is what
Babies can be screened for Down syndrome as part of prenatal care; however, these screenings don’t tell you if the baby has Down syndrome, it can only tell you how likely the baby is to have it. This first test is called the first trimester combined test. This includes blood tests and an ultrasound on the baby. Based on these two tests and age a doctor can try to estimate the likelihood of a baby having Down syndrome. If results come back positive and people think their kids has a great chance of having this genetic disorder they can try to have a few more tests done. Once the baby is born they first see if the baby has an visual symptoms. Appearance is a big key to knowing if a baby has Down syndrome right away when it is born. However, at times babies can have appearances that resemble Down syndrome even if they don’t have it so a test is done called a chromosomal karyotype which analyzes the child’s chromosomes. Once diagnosed a child should start treatment as soon as possible if they want to see more positive effects of the treatments. Usually doctors can refer patients to special early intervention programs in the area. These programs specialize in helping the diagnosed kids with developing different skills like: social, language and motor skills. Most kids will end up having a team of experts on their side. This would be a
Down Syndrome is a genetic disorder that occurs when a persons 46 chromosomes abnormally divides into 47 chromosomes, creating a full or partial 3rd copy of the chromosome 21.
Do you feel like your child is having trouble developing? Is your child having trouble learning to speak, read, or walk? If so, you may want to get a screening test and a diagnostic test to see if your child has down syndrome.
Down Syndrome can be diagnosed when the person is an infant. According to The National Human Genome Research Institute if one is suspected of this condition chromosome analysis is performed on the skin and blood to look for the extra chromosome 21. Most of the time the disease can be diagnosed during the pregnancy through certain types of tests (National Human Gnome Research Institute).
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.
Down syndrome was named after John Langdon Down, who was the first person to discover Down syndrome. In the earlier years it was called Mongolism, which is no longer used because it is offensive to the Mongolians. James N. Parker and Philip M. Parker state “Down syndrome is a chromosomal disorder caused by an error in cell division that results in the presence of an additional third chromosome 21 or ‘trisomy 21’” (10). There are different types of Down Syndrome according to the National Down Syndrome Society (NDSS), there is Trisomy 21, Mosaicism, and Translocation (What is Down syndrome?). There is no way to prevent having a baby with Down syndrome although chances increase as the woman gets older. The NDSS says, “A 35-year-old woman has about a 1 in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40” (What is Down syndrome?). Although the risk is greater for older women, it is still possible to have a child with Down syndrome at a younger age.