Genetic Disorders: Down Syndrome

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

Also known as Trisomy 21, Down Syndrome is an illness due to which an superfluous genetic structure leads to delays in the manner in which a child’s mental and physical faculties develop.

Babies with Down syndrome seem to be extremely quiet, less responsive, with weak muscles. Many physical signs of Down syndrome may be present including: flat face, small head, flat bridge of the nose, small mouth causing the tongue to stick out and to appear large, upward slanting eyes, extra folds of skin located at the inside corner of each eye, rounded cheeks, small ears, small wide hands, a malformed fifth finger, a wide space between the big and the second toes, and they appear to be shorter than normal

Various test can be done in order to see if the foetus has Down Syndrome. The most common tests to look for Down Syndrome.

Trisomy Down Syndrome happens when there are three 21 chromosomes as opposed to the normal two. This is a result of either the sperm or egg failing to separate causing a replication in every cell of the body. Another type called Robertsonian Translocation happens when part of chromosome 21 is translocated to another chromosome to the reproductive cells to the parent or early development of the child. This type accounts for about 4% of all cases of down syndrome. Mosaic is a form of down syndrome when the extra chromosome 21 is found only in some of the body's cells. “Mosaicism is the least common form of Down syndrome and accounts for only about 1% of all cases of Down syndrome.”

Down syndrome is a genetic disorder and the most common autosomal chromosome abnormality in humans. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21. This additional genetic material alters of development and causes the characteristics associated with Down syndrome. The primary purposes of this article are to: establish the origin of the term Down syndrome; determine the possible causes of Down syndrome; Likelihood of having a child with Down syndrome; and treatments for humans diagnosed with Down syndrome.

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 chromosome affected by Down syndrome is chromosome 21. Chromosome 21 is twenty first pair of chromosomes in which are a part of the twenty three pairs of chromosomes found in human beings. People normally have two copies of this chromosome. The trisomy of the twenty first chromosome causes Down Syndrome. The chromosome is defected because instead of two

Down syndrome is also called 21 trisomy, which is obviously pointed out the disorder occurs at the chromosome 21. Genetically, it has been found that there are 22 pairs of autosomes and one pair of sex chromosomes, where X and Y are sex chromosomes representing female and male respectively. These two kinds of chromosome pairs are normally made up 46 chromosomes in total while children with Down syndrome have 47 chromosomes, meaning they have one extra chromosome on the chromosome 21. This chromosomal disorder happens occasionally and randomly. One cannot put blame or fault on the individual or parent when the gene is

Down Syndrome affects many people, even those who don’t have it. Down syndrome is also called Trisomy 21. The term Down syndrome did not become the accepted term until the early 1970’s (“History of NADS”). Down syndrome is the most common genetic condition, almost 400,000 Americans have Down syndrome (“What Is Down Syndrome?”). When the 21st chromosome has an extra copy, full or partial, down syndrome will occur. With the extra genetic material it messes with the development physically and mentally. It also creates certain features connected with Down Syndrome. Some of the well known features are low muscle tone, small stature, upward slant to the eyes, and a single deep crease across the center of the palm (“What Is Down Syndrome?”). These features and their extent can vary from person to person, some may not even have any at all. One in every 691 babies born in the United States has Down syndrome, about 6,000 babies are born with Down syndrome each year in the United States (“What Is Down Syndrome?”). Just like the physical features the medical problems associated with Down syndrome vary from person to person, some may need a lot while others may need little to none. The health problem can be treated with the many resources available to help the people with Down syndrome and their families.

Down syndrome is a disorder in which an individual gets a full or partial extra copy of chromosome 21. Normally, at the time of conception a baby inherits genetic information from its parents in the form of 46 chromosomes: 23 from the mother and 23 from the father, but in most cases of Down syndrome a child gets an extra chromosome 21 for a total of 47 chromosomes instead of 46. The three types of Down syndrome are trisomy 21 (nondisjunction), translocation and mosaicism. According to the National Down Syndrome Society (2012), “One in every 691 babies in the United States is born with down syndrome, making down syndrome the most common genetic condition. Approximately 400,000 Americans have Down syndrome and about 6,000 babies with Down syndrome are born in the United States each year.” Down syndrome causes intellectual disability, developmental delays, and a distinct facial appearance such as a small head, a flattened face especially the bridge of the nose, an almond-shaped eyes that slant up, a short neck, small ears, a tongue that tends to stick out of the mouth, tiny white spots on the iris of the eye, small hands and feet, a single line across the palm of the hand (palmar crease), poor muscle tone or loose joints, and shorter in height as children and adults.

Some symptoms of Down Syndrome is short neck, flattened facial profile and nose, can have a small head, ears, and mouth, wide short hands with short fingers, and white spots in the color part of the eye. They may have poor judgement, impulsive behavior, and delayed language and speech development. When a child has down syndrome, the physical development is slower than a normal child. It will take kids with down syndrome longer to learn how to sit, walk, and talk rather than a child with no down syndrome. (https://www.nichd.nih.gov/health/topics/down/conditioninfo/symptoms)

Do you ever see other people and wonder why they act and look so differently? Their is a genetic disorder by the name of Down-Syndrome. Down-Syndrome is a condition in which a person has 47 chromosomes while others have 46. People with this disorder may have the facial features of flat face, small nose, upward slant eyes, enlarged tongue and may appear shorter than others. Down-Syndrome has nothing to do with race, nationality, religion or anything the father or mother did during pregnacy.. Most parents want to know what is going on with the baby as the mother is pregnant and the best way to find out if your child is diagnosed with Down-Syndrome is a screening test and diagnostic test. A screening test is when you take a blood

Down syndrome is a chromosomal condition related to chromosome 21. Down syndrome is a defect in the chromosomes causing intellectual impairment. Down syndrome is a very serious and sad disease but some people have said that it has brought more love into their home.

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.