Garner Down Syndrome

Thousands of babies are born a day in the United States. One out every 691 babies born has Down syndrome, a disorder caused by an extra copy of the chromosome twenty one. In short, this syndrome shortens the person’s life span, and causes assorted severity of mental retardation. Those carrying this extra chromosome have flattened noses, rounder faces, are petite in size, and are much more prone to additional unhealthy disturbances or effects on substantial systems in the body.

Down syndrome (Trisomy of Chromosome 21) occurs when there is a defect during meiosis, typically after a mother’s egg cells have remained in suspension for a prolonged period of time (risk increases with age) or during translocation errors during early embryonic development. Individuals with Down Syndrome present physical findings of a low nasal bridge, hypotonia, lowered ears, and short stature. Patients with Down syndrome may present signs of Alzheimer’s disease around 40 years of age.

The etiology of Down syndrome is due to a genetic mutation within chromosome 21. There are three types of Down syndrome, which include Trisomy 21, Mosaic Down Syndrome, and Translocation Down Syndrome. Trisomy 21 occurs when there are three copies of chromosome 21 in each nucleus, instead of the usual two. This type of Down syndrome occurs 95% of the time. Mosaic Down Syndrome occurs 1% of the time and is characterized by some cells having three pairs of chromosome 21 and others having the normal two. This is caused by abnormal cell division after

Down Syndrome is a medical condition that causes a delay in how a child develops, both mentally and physically. Each year, about 6,000 babies are born with Down Syndrome (DS), which is about 1 in 700 babies born. The cause of DS is unknown, meaning scientists don’t know how people get it, but we do know how it happens after the diagnosis. A baby is usually born with 46 chromosomes, 23 from each parent. Most likely is a DS case, the child has 47 chromosomes and has an extra “chromosome 21”. The extra genetic material is why children get DS, but scientists don’t know how it happens.

While nothing done before or during a pregnancy can cause Down syndrome a diagnosis can be available as early as pregnancy. An amniocentesis (thin needle inserted through the mother’s abdomen into the placenta) performed by a medical professional can easily identify the chromosomal abnormality or after birth with a simple blood test performed on the newborn. The earlier a diagnosis is made, the earlier parents can begin processing and using all the available resources to educate themselves on raising a child with Down syndrome. Parents will be able to gain the knowledge needed so that their child can receive the appropriate therapy and participate in activities that have been designed especially for this exceptionality, activities, which are geared to expand cognitive, social, emotional, and intellectual capacity.

Down syndrome is a genetic disorder also known as trisomy 21, that develops when there is an extra chromosome inside the cells of a person. Normally a person has 46 chromosomes so when a developing infant has an extra chromosome 21 they will have 47 chromosomes in a cell causing them to develop Down syndrome. Although you might think it is hereditary Down syndrome is not passed down from parent to baby nor do we know why it happens, it occurs at conception and there is no cure for it nor does it go away.

Pregnant women of advanced maternal age, during routine prenatal care, are offered genetic screening and testing for chromosomal anomalies. Misconceptions exist with genetic testing. Many women are misinformed about the risks of testing. The fear of testing, implications, results and miscarriage exists in many women. The Global Down Syndrome Foundation and the National Down Syndrome Congress in an effort to provide comprehensive information to women, created the Down Syndrome Prenatal Testing Pamphlet., a commonly used resource. Risks are generally associated with advanced maternal age, already having a child with the condition and being carriers of the genetic translocation for down syndrome. The global Down syndrome foundation addresses common misconceptions surrounding people with down syndrome relating to their physical and mental capabilities, and early demise. Common misconceptions affecting the family unit listed and addressed by the foundation include the potential of a ruined marriage and potential for down syndrome children to negatively impact siblings. Patient education and informed consent are required before genetic testing can

First of all, it is important to define Down syndrome. Traditionally, people are born with 46 chromosomes, 23 from the mother and 23 from the father. Down syndrome usually occurs when a person is born with an extra copy of chromosome 21. There are, however, other instances where Down syndrome can take place. For example, a person with DS might have it where, “...an extra broken piece of a twenty-first chromosome is attached to another chromosome (called translocation pattern)” (Berk, 2014, p. 40), a parent can be a carrier of the disorder, or a mosaic pattern could occur. A mosaic pattern is where a problem occurs in mitosis, resulting in some cells with defective chromosomes (Berk, 2014). How, then, can a mother know if she has a child with DS?

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 is characterized as a chronic genetic chromosomal disorder which alters one’s cognitive growth, intellectual development, and physical characteristics. This extremely widespread condition is most prominently existent in human beings whose genetic makeup is composed of an additional copy of chromosome 21. Additionally, these human beings are known for acquiring 47 chromosomes rather than the conventional 46 chromosomes. This chromosomal abnormality is extremely common, yet highly spontaneous. To illustrate, the prevalence of Down Syndrome is exhibited as around

Following several technical and medical advances and breakthroughs in the twentieth century, in 1959 French physician Jerome Lejeune identified Down Syndrome as a chromosomal abnormality. It was noted that there was 47 chromosomes in the cell of an afflicted person versus the normal 46. It was later determined that there was a third chromosome 21, called trisomy-21 (figure 1). Down Syndrome occurs in about 1 in every 800 to 1000 births and has affected more than 350,000 lives in the US alone It is caused by the extra chromosome 21 when an embryo has three copies of chromosome 21. Ninety-five percent of the time this is caused by disjunction during cell division. Due to younger women’s higher fertility rate, 80% of Down Syndrome babies are born to women under age 35. However, the chances of having a Down Syndrome baby increases with age of the parents.2 The phenotypes, or symptoms, of a Down Syndrome face are as follows: low muscle tone (weak muscle structure), small nose, flat face, slanted eyes (upward) and abnormally shaped ears (figure 2)

Down syndrome, also known as Trisomy 21, was first discovered in 1959 by a French physician named Jérôme Lejeune. He identified down syndrome as a chromosomal condition after noticing that there was a extra copy of chromosome 21 in the individual. Chromosomes are small “packages” of genes that carry hereditary information. They determine how a person will look, how their body functions, and traits they will carry. Normally, the human body contains exactly 46 chromosomes but when down syndrome occurs, the child has 47 chromosomes in the cell.

Down syndrome is sometimes called trisomy 21. This results from a chromosome disorder that results in an extra chromosome or a part of a third chromosome within the cells of a person (Blackman, 1990). “It was first identified by John Langdon Down in 1866” (Carr, 1995, p.1). Down syndrome causes learning disabilities, developmental delays, and health problems that can be very severe.

To begin ,Down syndrome is a chromosomal disorder that results when a person inherits all or part of an extra copy of chromosome 21. This can occur in a variety of ways, the causes of which are unknown. The most common chromosomal abnormality that produces Down syndrome (accounting for 95% of all cases) is Trisomy 21, a defect in which an extra, third copy chromosome is present in every cell in the body. According to Parenting Magazine the number of Down syndrome births is relatively low for 18-yr-old mothers—1 in about 2100 births. In the later childbearing years the risk in creases—1 in 1000 births for 30-yr-old women to 1 in about 100 births for 40-yr-old women. Two other chromosomal abnormalities cause Down syndrome and occur in about

Down syndrome is a common disorder where the child gets an extra copy of the 21st chromosome. It happens in every 691 babies born in the United States. This adds up to about 6,000 babies born with the disorder a year. The major points in this paper are: when the disorder was discovered, the symptoms, the lifespan, the medical treatments, if it is a dominant trait, what chromosome is affected, and how it is passed down to offspring.