Down Syndrome

Down Syndrome, also known as trisomy 21, is a genetic disorder in which a baby is born with an extra chromosome. A baby is usually identified at birth through observation of a set of common physical characteristics. They include having slanted eyes, a pushed in face, and “Brushfield spots” [white/gray spots that appear in the iris of people with down syndrome]. In the 1930’s down syndrome was not treated very well, however many changes in the medical field has led to a better treatment of those who have this illness.

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

Did you know that close to 6,000 babies are born with Down syndrome every year in the United States? The most common type of chromosomal condition is Down syndrome and there are a few different types of this condition, along with, several different traits that are displayed with this condition. I have always been interested in the topic of Down syndrome and thought it was a great idea to study more about it for my speech. First, I will tell you about what Down syndrome is and who discovered it. Second, I will talk to you about some symptoms and characteristics of this chromosome disorder. Third, I will discuss the 3 different types of this condition, and lastly, how they diagnose Down syndrome prenatally.

Down syndrome was first discovered in 1866 by Doctor John Langdon Down. He first described Down syndrome as a neurological disorder, but he misunderstood how Down syndrome is caused. Another doctor by the name of Jerome Lejeune discovered the cause of Down syndrome in 1959. In the 20th century, many people with Down syndrome were killed and neglected. They were put in institutions and were subject to many experiments including lobotomies. But over the years society has been able to understand Down syndrome and has now started an effort to find a cure. In the United States today, Down syndrome affects over 400,000 people.

. 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

The aetiology of Downs syndrome which means the cause of a specific disease (Mcferran, 2014). Suggests that when one of the chromosomes in reproduction do not separate properly this is when Down’s Syndrome is caused (Steven, 2005). This extra chromosome causes physical developmental defects this causes reduced muscle tone, a small mouth with a projecting tongue and eyes that slant downwards and upwards and causing the back of their head to be flat. Many babies born with Down's Syndrome are diagnosed with the condition after birth and are likely to have many physical defects for example they may have reduced muscle tone, eyes that slant upwards and outwards, a small mouth with a protruding tongue and a flat back of the head. (Hartley, 2015). Down Syndrome patients can also be afflicted with other conditions, including heart disease, Alzheimer’s disease, and leukemia (WHO, 2010). This could effect children and adults through out their life also effecting their physical and mental health.

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.

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.

“According to the Centers for Disease Control and Prevention, one in 700 babies within the United States is born with Down syndrome. This makes Down syndrome the most common chromosomal condition, and about 6,000 babies with Down syndrome are born in the United States each year. In 1866 down syndrome was described as a disorder but there was no evidence on what caused it. Later in 1959 it was discovered that down syndrome was a genetic disorder that it was mostly known for delays in cognitive development. Down syndrome can lead to mild or moderate learning disabilities, unique facial characteristics, and low muscle tone in infancy.” Although here is no cure for Down syndrome the way we can help is by giving them the education and proper care so that they will have endless opportunities.

Down syndrome is a disease in which chromosome 21 has extra genetic material delaying the way a child develops mentally and physically.

Down syndrome (known as Trisomy 21) is a genetic disorder caused when cell division results in extra genetic material from chromosome 21. This genetic disorder occurs in about 1 of 800 live births. Down syndrome was first characterized a separate form of mental disability by John Langdon Down in 1862. By the 20th century the disability had become the most recognizable form of mental disability. These individuals have gone through a lot. In ancient times, many infants with this disability were killed or abandoned. The people with Down syndrome used to be called Mongolian idiots and the syndrome was called mongolism. This comes from the people thinking that Down syndrome individuals resembled Mongolians. It doesn’t only affect the individual

In 1866, a British physician, John Langdon Down, for whom the syndrome is named, first described Down Syndrome, as ?Mongolism.? Down was a superintendent of an asylum for children with mental retardation. He observed a set of children with common features who were distinct from children with mental retardation. The term Down Syndrome didn?t become the accepted term until the early 1970s. More was learned about the condition in 1959, when French Pediatrician/Geneticist Profess Jerome Lejeune discovered that individual with Down syndrome had an extra chromosome. Shortly thereafter, chromosome studies were developed to confirm the diagnosis of Down syndrome (Wright, 2011).

Children with Down syndrome have physical characteristics that resemble a family member. A child with Down syndrome may have a face that is slightly broader with a flatter nasal bridge. The eyes may slant upward and appear to have a small fold of skin on the inner corners called epicanthal folds. The mouth may be small which may cause the tongue to appear large and protrude due to poor muscle tone. The ears are small and their hands and feet are smaller. The palms of the hands might have a single crease across it called

Down syndrome was fist described by John Langdon Down in 1866, but the earliest depiction of someone with Down syndrome was a painting dated in 1515. John Langdon Down had said it was only a disorder, but did not understand how it occurs. The cause was later discovered in 1959.

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