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Case study in trisomy 21
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Down Syndrome Chromosome Twenty One Down syndrome affects one out of 700 children born in the United States. A chromosomal disorder associated with the twenty first chromosome pair, brings a lifetime of challenges to the affected person. Down syndrome is associated with intellectual disability, a characteristic facial appearance and reduced muscle tone during infancy as stated by Genetics Home Reference (2013). There are three different scenarios in which Down syndrome can occur. Down syndrome typically occurs as the result of having an extra twenty first chromosome. This extra twenty first chromosome can be seen in the picture to the left. This extra chromosome in the cell happens as a mistake that takes place during cell division between the female’s egg cell and the male’s sperm cell. This error in cell division, known as nondisjunction, is the cause of 95% of Down syndrome births. This is also referred to as Trisomy 21. Another cause of Down syndrome is when the cells have the correct number of chromosomes to begin with after fertilization, but when the cells are rapidly dividing one or more of the cells can end up with an extra chromosome twenty one. This way of getting down syndrome, known as cell line mosaicism is rare, and the person shows less severe signs of the typical Down syndrome disorder. The third scenario of Down syndrome is also rare and is caused by having the normal number of chromosomes but a whole chromosome twenty one being attached to another set of chromosomes. This is called Robertsonian translocation and occurs in about three to four percent of Down’s syndrome cases. The disease of Down syndrome is not found within a certain gender or race. Down syndrome is however found equally between a... ... middle of paper ... ... of through surgery or therapy. However people with Down syndrome tend to be very kind hearted people and good easy going people. They can still preform everyday task as normal people without the disease can. People with Down syndrome can still go to work and have jobs. These jobs however should be an easier job than usual. References Chromosome 21. (2013, November 1). Retrieved January 22, 2014, from Genetics Home Reference website: http://ghr.nlm.nih.gov/chromosome/21 Down syndrome. (2008). In K. L. Lerner & B. W. Lerner (Eds.), The gale encyclopedia of science (4th ed.). Retrieved from Gale Student Resources in Context database. (Accession No. CV2644030714) Winders, P. C., PT. (n.d.). Physical Therapy & Down Syndrome. Retrieved from National Down Syndrome Society website: http://www.ndss.org/Resources/Therapies-Development/Physical-Therapy-Down-Syndrome/
On a normal person, you have 23 pairs of chromosomes. In each pair, 1 gene comes from the mother, and 1 gene comes from the father. This is how things get passed down from parents to children (like eye color, height, skin tone etc...).
Wolf-Hirschhorn syndrome (WHS), first described by Wolf et al[1] and Hirschhorn et al[2], results from the hemizygous deletion of the distal short arm of chromosome 4. Due to the complex and unmarked expression of this disorder, the WHS syndrome is presumed to be a contiguous gene syndrome with an indeterminate number of genes responsible for the phenotype i.e. a multigenic etiology. [3][4]
For as long as I could remember, I always knew that I wanted to pursue a career in the field of physical therapy. Everything about the human body is captivating from the way it works to its powerful ability to heal itself. To many people, the field of physical therapy involves using exercise to aid in the restoration of physical function in patients, but to me, it means so much more. One reason as to why the field of physical therapy peeked my interests is because it combines my keen curiosity for the human body and all its fascinating capabilities, physical exercise and the compassion to help others. In recent years, several events occurred that have helped inspire me to become a physical therapist.
The gene for hemophilia is carried on the X chromosome. The gene for hemophilia is
DNA Timeline: DNA Science from Mendel to Today. (2014). Retrieved May 29, 2014, from http://www.dnai.org/timeline/
...ility, they are weak and are not as vigorous/ active as kids that don’t have down syndrome. Many kids with translocation down syndrome function differently than others because they have to deal with mental and physical problems unlike others and often need physical therapy. Not only that, kids with this disorder take intervention classes to try to improve the disorder as well as try to improve their physical, mental and intellectual abilities. Also, kids with down syndrome are slow in motor development(the ability to control one’s body movement’s). They also have verbal short-term memory loss.At school, kids with down syndrome should interact with others to build a foundation of social abilities allowing the child to be more sociable and participate in discussions in class. This will improve the level of functioning of a child with translocation down syndrome.
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
It is well known that children have Down syndrome within physical features. They are not different than a person who does not have Down syndrome, but their physical features are quite different such as, facial appearance in the face, which is flatter. They also have a slant within their eyes, smaller ears and protruding tongue which is slightly bigger and suspends out a part from the mouth. (2)
Children with Down Syndrome have distinct physical characteristics. They are short in stature and have a small, round face with a high flattened ...
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...
Many people believe, from common knowledge, that having a Down syndrome cannot be prevented and that it is genetic. This was proved w...
Down syndrome, a genetic disorder, is the most common cause for 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). According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS.
"Down syndrome." South African Medical Journal 101.1 (2011): 6. Health Reference Center Academic. Web. 16 Apr. 2014.
Down Syndrome Education Online -. Education online. 1996-2013. Web. The Web. The Web.
Imagine coming into 4th grade on the first day of school and having the other children look at you funny and not understanding why. Nothing is more devastating than when you are excited to make friends and interact with the other children, but when the teacher hands out assignments and tells everyone to get in small groups, and you are excluded and have to work by yourself or with a teaching assistant. This is what it is like to be a 4th grader with Down syndrome.