Down Syndrome: A Case Study

Down syndrome is named after Dr. J.L. Down, who first discovered and studied the condition. It is part of a large number of disabilities known as intellectual disabilities. Down syndrome is present at birth and individuals are usually diagnosed during pregnancy or shortly after birth. There are three types of Down syndrome. The most common of these involves an extra number 21 chromosome, which gives the individual 47 instead of 46 total chromosomes. A chromosome breaking and then reattaching to another chromosome characterizes translocation, which is the second type of Down syndrome. The third type, nondisjunction occurs when a pair of chromosomes fail to separate properly during nuclear division. Individuals with this disability usually

. 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

Since a long time, individuals suffering from Down syndrome have been casually mentioned in passing within books, movies and science, to name a few. However, it was in the late nineteenth century that the English physician, John Langdon Down, wrote a revealing description of a Down syndrome patient in 1866. This led to John often being referred to as the ‘father’ of Down syndrome, who was the first one to write about the illness as a separate and unique entity (Morgan, Moni, & Jobling, 2004).

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.

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

Two of the main methods, or tests, used to tell whether a child has Down syndrome or not are a screening test and a diagnostic test. The screening test doesn’t give a for sure answer, but an educated guess, which is typically accurate. These screenings typically include a blood test, to measure the quantity of various substances in the mother’s blood, and an ultrasound, to be able to see if there are any noticeable physical features which are typical of a child with Down syndrome. The diagnostic test has two different procedures. There’s the chorionic villus sampling, CVS, and amniocentesis. Both of these tests are always accurate and can even distinguish which type of Down syndrome the child has if it has the disorder (Diagnosis). With these tests, there is a small chance of a miscarriage, but that typically isn’t an issue. If the tests aren’t taken into place before the child is born, the doctor can usually diagnose the child right after being born by relating its physical symptoms to the ones of Down syndrome. Once diagnosed with Down syndrome, the next step is treatment

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

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.

Often times individuals with Down Syndrome experience oral facial issues that include upper and lower lip placement, tongue placement, drooling, and sucking. These malformations effect the ways in which these individuals can eat and speak. According to Castillo and Morales, in a study they conducted with sixty-seven down syndrome patients, found that through their oral facial therapy, patients

Down syndrome is a genetic disorder that begins to develop at the cellular level after conception. All the cells in the human body contain a center, called a nucleus, in which genetic code of each human being is stored. This genetic material, known as genes, carries the codes responsible for all our inherited characteristics from the mother and the father. Genes are grouped along rod-like structures called chromosomes. The nucleus of each cell normally contains 23 pairs of chromosomes, half of which come from each parent. In Down syndrome, however, the cells usually contain not 46, but 47 chromosomes. The extra chromosome being a number 21. This excess genetic material, in the form of additional genes along the 21st chromosome, results in Down syndrome. Ninety-five percent of all cases of Down syndrome occur because there are three copies of the 21st chromosome; it is often referred to as "trisomy 21." Chromosomes are studied by examining blood or tissue cells. Individual chromosomes are identified, stained and numbered from largest to smallest. The visual display of the chromosomes is known as a “karyotype”. (Karyotype is the analysis of counting the chromosomes in each cell)

Down syndrome is a genetic defect attributed to an abnormality of the human chromosome 21. The National Down Syndrome Society (NDSS), a national advocate organization for the value, acceptance and inclusion of people with Down syndrome, notes that modern research has successfully identified three types of Down syndrome. The NDSS reports that Nondisjunction Trisomy 21, in which there are three copies of chromosome 21 instead of two, is the most common type of Down syndrome. Prior to or at the point of conception, a pair of 21st chromosomes in either the

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

Down Syndrome can appear immediately prenatally and postnatally, and has sometimes been shown to have an onset later in life as well. It all depends on the bodies growth over time and

Down syndrome is a genetic condition in which individuals are born with a full or partial copy of chromosome 21. Down syndrome, in most cases, is not a result of an inherited condition, but rather a “chromosomal abnormality that occurs as a random event during the formation of reproductive cells” (Down Syndrome). With this condition there is a range of severity from very mild to moderate, and in some cases severe. The one trait that is very consistent among these individuals is mental retardation. Although these individuals face impairments they are generally very affectionate, thoughtful, and resilient.