. 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
Down Syndrome is a chromosomal condition related to chromosome 21. It affects 1 in 800 to 1 in 1000 born infants. People who have Down Syndrome have learning difficulties, mental retardation, a different facial appearance, and poor muscle tone (hypotonia) in infancy.
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.
Down syndrome is a genetic disorder that numerous individuals around the world suffer from; it is an intellectual disability that is caused by having one too many chromosome 21 copies, trisomy 21. The average person has two copies of chromosome 21 in each cell, whereas, an individual with Down syndrome has an extra copy of chromosome 21. This happens when either the sperm or egg cell undergoes atypical cell division during development. In the United States, there are approximately 400,000 individuals who have been diagnosed with Down syndrome, according to the last census in 2012 (National Down Syndrome Society).
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
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.
Trisomy 21 also called Down syndrome, is an abnormality at a chromosome level and is believed to be the most prevalent genetic impairment (Bukato & Daehler, 2012, p. 89). Compared to other children with related mental development, a child with Down syndrome has academic impairment such as language and memory, their physical development is considered slow, and they possess unique traits. Some of these traits consist of almond shaped eyes, a flattened facial feature, broad hands, and an unusual crease in the center of the palm. Physical development is considered slow which results in being short in stature, height, and poor muscle tone. This syndrome causes poor vision including cataracts and other eye problem, immune system deficiencies. Forty percent
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 (also known as trisomy 21) is a disorder that makes you physically and mentally more challenged than everyone else but you are still able to grow develop and live a partially normal life. The major causes of Down syndrome are first just getting unlucky and having the 21st chromosome be irregular. But if you have a child when you are older than 35 you have a highly increased chance of getting down syndrome also if you have a sibling with Down syndrome or another kid with-it that can also increase the chance of getting down syndrome. Some symptoms of this disorder are, you can be physically less capable than others can and can have a hard time remembering things and can possibly not be able to achieve what seems to be easy things to do daily. However, most important, they only live to about 80. In addition, they can have a hard time reproducing but can still can reproduce.
In the nineteenth century, 1886, John Langdon Down was the first to publish an accurate description of Down syndrome, so he was then deemed the “father” of this disorder. However, there were earlier drawings and descriptions of Down syndrome that began the awareness of the disorder. Down syndrome has become the most commonly occurring chromosomal condition. Children who have Down syndrome can have moderate to severe delays in communication development. Because of the delayed development that comes with Down syndrome, the affected children will have more phonological difficulties than others do(book). There are quite a few common physical traits of Down syndrome. These traits are an upward slant to the eyes, low muscle tone, a single deep crease across the center of the palm, and a smaller stature. However, not each person with Down syndrome shows each of these characteristics to the same degree or they may not show them at all.
Down Syndrome is a genetic disorder that causes a range of physical disorders and developmental delays. It can be identified by some of the physical attributes the disorder comes with. These include a single deep crease across the palm of the hand, slightly flattened facial profile, and an upward slant to the eyes. To confirm the diagnoses doctors run a karyotype, which is a chromosomal analysis. They do this by extracting a blood sample and grouping chromosomes by size, number and shape.
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 article “Down Syndrome” reviewed by Dr. Mary Gavin, thoroughly explains the causes, affects and diagnosis of the condition. This genetic condition involves the individual gaining an extra chromosome, ending up with 47 instead of 46. A person with Down syndrome facial and bodily features will be distinctly unique, making it easy to characterize them from others. Consistent medical attention is crucial for a child with the condition, even if the child appears to have no significant health concerns. With out proper care, the child could develop pulmonary hypertension, worsened vision and hearing, seizures, asthma, infections etc. Prenatal screening