‘’Down syndrome is a type of mental retardation caused by extra genetic material in chromosome 21’’(1). In the beginning, children with Down syndrome were referred as “mongoloids” because they looked like people from Mongolia but, the term was changed to Down’s syndrome. Down’s Syndrome named after John Langdon Down, the man who first described it (2). Down syndrome due to a genetic cause and it has more than one type and characteristics.
Every cell in the human body contains genetic material stored in genes that carry inherited traits that are grouped in structures called chromosomes. The nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. People unaffected by any chromosomal condition are born with 46 chromosomes in each cell (22 pairs plus 2 sex chromosomes). After conception, the fertilized egg begins to divide. Each new cell will have a matching set of chromosomes and each cell will have the same genetic code as the first cell. In Down syndrome the chromosomes in the very early cells do not pair off correctly, and the baby begins to develop with 47 chromosomes. Down syndrome is caused when an embryo has three copies of chromosome 21 instead of two. Three copies of the chromosome can be due to a procedure called
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nondisjunction. This process happens when genetic materials fail to split up through a severe part of the formation of gametes (1). This supplemental chromosome 21 changes the embryo’s development and causes the characteristics associated with Down syndrome. Some physical characteristics of Down Syndrome in infants are decreased muscle tone, a flat face, eyes slanting up, irregular shaped ears, ability to extend joints beyond the usual, large space between the big toe and its neighboring toe, large tongue relative to the mouth, also they can be affected with other problems such as heart disease, Alzheimer’s disease, and leukemia (1).
The large tongue problem affects the ability of talking, for instance, a baby will start vocalize his first word at the age of 11 to 15 months while the normal baby starts saying “ba-ba-ba”, ma-ma” (babbles) (4). Down syndrome forms are varying in proportion of incidence and process of attaching the
chromosome. There are three types of Down syndrome. First, Trisomy 21(nondisjunction) is caused by an error in cell division called nondisjunction. Instead of the normal two copies of chromosomes, there are three copies of chromosome 21. It is the most common kind of Down Syndrome accounting for around 95% of all cases (3). Mosaicism (or mosaic Down syndrome) is a mixture of two types of cells, some cells contain the 46 and the other 47 chromosomes. Those cells with 47 chromosomes contain an extra chromosome 21. It can result in a milder level of intellectual disability and less obvious physical characteristics to the other types of Down syndrome. This occurs in 1 -2% of people with Down syndrome. (3). Translocation Down Syndrome is the third form of Down syndrome. The chromosomes remain 46. Then, a part of chromosome 21 attached to another chromosome, usually chromosome 14(3). This type is uncommon occurring in about 4% of cases (3). to conclude, Down syndrome is a set of mental and physical symptoms that result from having an extra copy of chromosome 21. It has three type, Trisomy 21, Mosaic Down Syndrome, and Translocation Down Syndrome. Down syndrome is a lifelong condition. But with care and support, children who have Down syndrome can grow up to have healthy, happy, productive live
"Down syndrome." South African Medical Journal 101.1 (2011): 6. Health Reference Center Academic. Web. 16 Apr. 2014.
Down’s syndrome is a chromosomal condition that is caused by an extra 21st chromosome as there is an error in the body’s cell division. Every human has a nucleus in every cell in the body which contains genes that are grouped along with chromosomes. The normal number of
Another frame of reference used with Down syndrome children is the motor control approach (Uyanik & Kayihan, 2010). Normal development occurs in stages, normal movement and function is essential to a ...
Down Syndrome results when one of the three types of abnormal cell divisions involving chromosome 21 occur. Roger W. Harms, a medical doctor, states, “Human cells normally contain twenty-three pairs of chromosomes. One pair comes from your father and one pair comes from your mother.” In each pair, one chromosome comes from the father, and one comes from the mother. One of the three genetic variations that can cause Down Syndrome is Trisomy 21. This version of Down Syndrome occurs more than 90% of the time. It re...
“About 13 of every 10,000 babies born in the United States each year is born with Down syndrome. It affects an equal number of male and female babies” (Johnson P. A. 2014). Down syndrome is a genetic disorder that found across the world, however it is more prevalent in the United States. The cause of the disorder roots to the paring of the human chromosomes. A normal human receives 23 pairs of chromosomes, each pair coming from mother and father. In Down syndrome most people affected have an abnormal cell division of the chromosome. Both parents are carriers of the There are three types of variations that includes trisomy 21, mosaic, and translocation.
Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 21 in each of the body's cells.
Down syndrome is a very common disorder now a day’s, but not many know what it actually is. Down syndrome was a topic that was not as common back in that day. “John Langdon Down, an English physician, published an accurate description of a person with Down syndrome. It was this scholarly
An individual who has Down syndrome can be recognized as different from others since he or she have different physical features, but the question is, what causes individuals to have deformed face, little different features than someone who does not have Down syndrome? The reason some individuals are born with Down syndrome is because of an extra chromosome, this chromosome, which carries number 21. It is also known as Trisomy 21. Having this sort of disability, does not truly affect their life in a way they are not able to live, but it affects their cognitive levels, their physical growth of the child with Down syndrome. As the mother goes for an ultra sound, doctors can detect that the child within the mother’s womb has Down syndrome. (1) Mothers over age 35 have higher risk of giving birth to a child with Down syndrome, and 1 in every 1,000 women at the age of 30. In addition, in every 100 women, who age 40 there is a mother has a child with this case. As woman ages there is a higher chance of conceiving a child with Down syndrome than a woman who is in her mid-20s or younger. (2) This essay will highlight the effects and supports of Down syndrome in children.
In 1886, physician John Langdon Down was the first scientist to identify Down syndrome. Down was the administrator of a mental institute for children in Surrey, England. From his observations and work at the institute, he was able to identify a set of children who exhibited characteristics such as short nose, broad flat face, short and broad hands, which are features commonly identified with Down syndrome. He later wrote an essay entitled “Observations of the Ethnic Classification of Idiots” in which he asserts the notion that it was possible to classify different types of health conditions through race. His essay included his now famous classification of what is today known as Down syndrome, which he categorized as the Mongol...
In 1866 British doctor John Langdon Down defined and described the characteristic symptoms of Down Syndrome but was unsure of the cause. It wasn't until 1959 that Dr. Lejeunne and his team in Paris showed that people with Down Syndrome have an additional chromosome. We normally have 23 pairs of chromosomes, each made up of genes. The cells of people with Down Syndrome include three chromosome #21 instead of two. The extra 21st chromosome causes an extra dose of proteins. These proteins cause the typical features of Down Syndrome. While the fetus with Down Syndrome is developing, its body cells do not reproduce as fast as usual. That is the main reason why these babies are smaller than average after birth and their brain not as big as those of other newborn children.
Down syndrome is a genetic disorder, associated with the presence of an extra chromosome. Downs is characterized by mild to severe mental impairment, weak muscle tone, shorter stature, and a flattened face. Down syndrome is not a very common disease, one in every 691 children are born with Down syndrome. The disability is an illness that people are born with and is not contagious. Most people with Downs have a life expectancy of about 40 or 50 years of age. They only live for that short amount of time because they begin to develop a similar disease to Alzheimer’s. “100% of people with Down syndrome will develop some physiologic signs of Alzheimer’s when they are over 35 years old in the U.S” (Statistics about Down Syndrome). They also die earlier because having Down syndrome increases the risk of leukemia 15-20 times in the US. Therefore most people with Downs will die because of leukemia or heart problems before the age of 50.
In the following studies, the various strengths and weaknesses of the language and communication of individuals with Down syndrome (DS) are reviewed and discussed. Language is defined as the method of human communication, either spoken or written, consisting of the use of words, in a structured or conventional way. Communication is the interaction or exchange of information or news (Webster, 2013). Down syndrome, a genetic disorder, is the most common cause of intellectual disabilities, occurring at an average of one out of every 700 births (CDS, 2006). This disorder is caused by the extra chromosome 21 (also known as Trisomy 21).
this is his normal. By having down syndrome, it usually comes with learning and speech
It is a well known fact that all living things, humans included, are made up of cells. The nucleus of a typical cell in the human body is made up of 23 pairs of chromosomes. Half of the pairs come from each parent. In some individuals there is a full or partial extra copy of chromosome 21 present; these individuals have Down Syndrome (National Down Syndrome Society). Down Syndrome is a genetic disorder that most people know very little about. Since Down Syndrome is something that very few people know much about, this paper will include a lot of information about the disorder that is not well known to the general public. In this paper I will discuss what exactly Down Syndrome is and provide background information and history, describe how and when the disorder is diagnosed, provide insight of what life is like for a person with Down Syndrome and I will do my best to clear up many misconceptions that people often have about individuals with Down Syndrome.
of the cells, instead of the norm of two. Generally, Down syndrome is not hereditary since it is