Down Syndrome Essay

There are no standard medical problem or physical defect that is linked with all patients with Down Syndrome. The symptoms can differ from one child to another, which is why some child patients require a lot of medical help, whereas many others live healthily (Girod, 2001).

The presence of an extra chromosome is prevalent in plants but rare in animals. Diploid human cells contain 46 chromosomes, 44 autosomes and two sex chromosomes namely XX in females and XY in males. At mitotic metaphase, each of the chromosomes can be recognized by its size, shape and banding pattern. However, there could be non-disjunction of chromosomes during the process of meiosis, and as a result, one of the cells may receive an extra copy of the chromosome resulting in a condition called trisomy. One of the most common chromosome abnormality in humans is Down Syndrome, a condition associated with an extra chromosome 21. This condition was first described by British physician, Langdon Down (Web. Down Syndrome, n.d.).

Down syndrome is caused by having an extra chromosome on the twenty-first chromosomal pair. People with down syndrome have forty-seven pairs of chromosomes. There are three types of down syndrome and they are Trisomy 21, Translocation, and Mosaicism. Trisomy 21 is the most common type of down syndrome. It occurs when there are three rather than two, number 21 chromosomes present in every cell of the body. Trisomy 21 accounts for ninety-five percent of the down syndrome population. Translocation unlike Trisomy 21 only accounts for four percent of the down syndrome population. In this case, part of the twenty-first chromosome breaks off during cell divas and attaches itself to another chromosome, usually chromosome 14. Mosaicism is the rarest

Trisomy 21 is a disorder that is also considered a chromosomal abnormality because it has an extra chromosome added. This causes the abnormality to have Down syndrome. Like in 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 reproduction cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells.

known risk factor is advanced maternal age-at age 35, a woman has 1 chance in

The genetic disorder of Trisomy 21, or Down syndrome is one that has often interested me. I understand that many children born with his genetic disorder can in fact live a full life, often with assistance. When answering the question of what exactly Down syndrome is, a good definition can be one describing this disorder as a genetic condition where a person has an extra 21st chromosome. The typical person has 46 chromosomes, therefore the person born with Down syndrome has 47. This extra chromosome brings with it some physical and cognitive characteristics that include mild to severe cognitive delay, low muscle tone, stunted growth, an easily identifiable upward slant to the eyes, generally a deep crease across the center of the palm and the appearance of a flat face. We have to keep in mind however, that each person with Down syndrome is an individual and might have some of these characteristics to different degrees, or possibly none at all.

a child who doesn´t. When a child has down syndrome there are very noticeable symptoms like: flattened facial features, short neck, small head or poor muscle tone . Some other symptoms that could be present are: more flexibility than a healthy person would have, brushfield spots which are tiny dots on the iris of the eye or unusually shaped ears. Although babies with Down syndrome seem to be the same size as normal babies, they end up growing slower causing some of the unusual formalities. Also things like walking or sitting can happen at a later age than usual for kids with this genetic disorder (3). Not only are there physical symptoms that are easier for us to notice but there are also health problems that can occur with this disorder as well. Babies who have Down syndrome are likely to have health problems like: mild to moderate cognitive disabilities, heart defects, depression or behavior problems and many others

Individuals with Down Syndrome also have an increased risk for having heart defects, digestive problems such as “gastroesophageal reflux or celiac disease”, and hearing loss. Some people who have Down Syndrome have “low activity of the thyroid gland (hypothyroidism)” - an organ in the lower neck that produces hormones.

Symptoms of down syndrome are the following Flat facial features, Small head, Short neck, Protruding tongue, Upward slanting eyes, that is unusual for the child's ethnic group, Unusually shaped or small ears, Poor muscle tone. Broad, short hands with a single crease in the palm, Relatively short fingers and small hands and feet, Excessive flexibility. Tiny white spots on the colored part or the iris of the eye called Brushfield spots, Short height. Infants and children with down syndrome may be average size at birth , but typically they grow slower and remain shorter than other children the same age. In general, developmental milestones, such as sitting, crawling or walking may occur at about twice the age of child without impairment. People with down syndrome also suffer from cognitive delays. People affected by down syndrome varies greatly, it can happen to anyone, although more common in pregnant mothers 35 years or older. the cause of down syndrome is due to having an extra chromosome, therefore it is a disorder that happens 99% randomly and only 1% genetically. Unfortunately there is no cure, treatment or prevention for down syndrome as of today, but scientists are continuing to research for a cure. People with Down Syndrome live healthy, active lives and can function in an everyday environment.

In every cell in the body there is a nucleus and this is the location where genetic material lives. These genes are responsible for carrying the inherited traits that we get from our parents, in the form of chromosomes. Normally each cell contains a nucleus with a pair of 23 chromosomes, half of which come from mom and the other half coming from dad. The genotype in the example given is that of a person with Down syndrome. Down syndrome is a chromosomal disorder that results in learning disabilities and physical abnormalities. Most cases of Down syndrome are caused by an extra copy of chromosome 21. An extra chromosome, making 3 of one kind, is called a trisomy and the most common is trisomy 21. This may be a chromosome given to the child from the father but a portion of mothers can also pass the chromosome to the child, mothers that get pregnant over 35 years of age have been shown to pass on the chromosome. Physical appearance will lead a doctor to suspect a patient with Down syndrome but a blood test is needed to determine if the patient has the extra chromosome. Down syndrome can affect many parts of the body, there are

This means that babies with down syndrome have an extra chromosome, chromosome 47. Some symptoms of the disorder is physical features such as, flat facial profile, upward slant to eyes, small ears, protruding tongue, and your child will have low muscle tone. Other symptoms include, problems with hearing and vision, being cross eyed, having breathing problems, taking longer than normal to reach childhood milestones and take care of themselves, mild to moderate learning impairment, and growing at a slower rate.

Research has said that this random occurrence has nothing to do with the activity from the mother or father or the environment. National Institutes of Health says, “In more than 90% of cases, the extra copy of chromosome 21 comes from the mother in the egg. In about 4% of the cases, the father provides the extra copy of chromosome 21 through the sperm. In the remaining cases, the error occurs after fertilization, as the embryo grows.” (National Institutes of Health, 2012.”

Children with DS often grow slowly and as they become an adult they are shorter than normal. Their neck can have excess fat and skin which makes it look shorter than normal. Short, stocky arms and legs along with a wide space between the big toe and second toe is also a physical body symptom. As for face shapes and features they can have slanted eyes, nasal bridge that looks pushed in, small ears that look low on the head, irregularly shaped mouth and tongue. A child’s tongue can partly stick out and the teeth can come in late and in a different order than other children. Most children with DS have mild to moderate cognitive disabilities such as impulsive behavior, short attention span and slow learning capabilities. Some health issues that are often symptoms of DS are heart defects, hypothyroidism, eye conditions, hearing and dental problems, respiratory infections and depression. (What is Down Syndrome)

Though not all children with Down syndrome have the same features, some of the more common features are small head , short neck , flattened facial features, protruding tongue, unusually small ears, poor muscle tone, relatively short fingers and small hands and feet and short height just to name a few.

. 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