The Chromosome Disorder Down Syndrome
Down syndrome is the most common and readily identifiable chromosomal condition associated with mental retardation. It is caused by a chromosomal abnormality: for some unexplained reason, an accident in cell development results in 47 instead of the usual 46 chromosomes. This extra chromosome changes the orderly development of the body and brain. In most cases, the diagnosis of Down syndrome is made according to results from a chromosome test administered shortly after birth.
Approximately 4,000 children with Down syndrome are born in the U.S. each year, or about 1 in every 800 to 1,000 live births.
Down syndrome is found in one in every 691 babies in the United States! (Global Down Syndrome Para 12). The abnormality in physical and mental traits of this genetic disease has made it moderately difficult for those who are diagnosed to live. Their lifestyle and their parents are more complicated than a regular human being because of the extra attention towards health and education needed. But with extensive medical care and proper techniques families are able to get through the illness.
Translocated Down Syndrome
Translocated Down Syndrome is genetically passed on from a parent’s gene to its child (Clinical Key, 2012). In this paper we will look at a short description of what Down syndrome really is, the genetic causes of Translocated Down syndrome, symptoms, characteristics, medications, intervention programs and testing for Down syndrome while an infant is still in the womb.
The effects of Down syndrome are caused by an extra chromosome. “a genetic disorder, associated with the presence of an extra chromosome 21” (Dictionary.com, 2014).
Down Syndrome
Down syndrome is an inherent issue emerging from a chromosome deformity, bringing about scholarly disability and physical variations from the norm including short stature and a wide facial profile. It emerges from a deformity including chromosome 21, for the most part an additional duplicate. Down syndrome may also be known as trisomy 21 due to the fact that that is the chromosome that is affected.
In every cell in the human body, there is a center, where an innate material is secured in qualities.
“National Down syndrome society (NPSS) states that 1 in 700 babies in the United States are born with Down syndrome” (Health Line).The causes Down syndrome come from the parents; they carry their genes on to the child. “The genes are considered chromosomes, when the baby cell
Down syndrome is a birth defect caused by a genetic disorder that affects 350,000 people in the United States. It is caused by abnormalities in the genes and is not inherited, meaning that parents do not pass this onto their children. Genetics is the study of heredity or how certain traits are passed from parents to their children. Genes are the basic unit of heredity. Cells are the building blocks of your body and each one of us has more than 100 trillion cells. Our genes are located in chromosomes. Each cell in your body contains 46 chromosomes or 23 pairs. In a person with Down syndrome, there are 47 chromosomes. In 1956, a French researcher named Jerome Lejeune used a new powerful microscope to view human strands of DNA. DNA is what holds an individual person’s genes. He studied these DNA strands and determined that there is an extra strand in chromosome 21, which is now called “Trisomy 21” tri meaning three and somy for the word chromosome – meaning three chromosomes. No one knows exactly what causes Down syndrome aside from it being genetic.
Down syndrome is a genetic disease where there is an extra chromosome on the 21st chromosome. Now there are three types of Down syndrome Trisomy 21, Mosaic Down syndrome, and Translocation Down syndrome. First we’ll talk about Trisomy 21. According to Mayo Clinic Staff (2011) “More than 90 percent of the time, Down syndrome is caused by trisomy 21. A child with trisomy 21 has three copies of chromosome 21 — instead of the usual two copies — in all of his or her cells.”(Para.3) so from this we can conclude that this is the most common type of Down syndrome. Next there is Mosaic Down syndrome according to the Mayo Clinic Staff (2011) “In this rare form of Down syndrome, children have some cells with an extra copy of chromosome 21. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization.” (Para.4) we can conclude from this that this is a rare type of Down syndrome and is a mixture of normal cells and the cells that have more than two chromosomes so it’s like a mosaic because the cells are mixed. Lastly there is Translocation Down syndrome. According to Mayo Clinic Staff (2011) “Down syndrome can also occur when part of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. Children with translocation Down syndrome have the usual two copies of chromosome 21, but they also have additional material from chromosome 21 attached to the translocated chromosome. This form of Down syndrome is uncommon.”(Para.5). this paragraph shows that the child has two copies of chromosome 21, but some on one of the copies some extra material sticks on. According to the Mayo Clinic Staff (2011)”Translocation Down syndrome is the only form of the disorder that can be passed fr...
Down's syndrome is not a disease and therefore people with Down syndrome do not suffer nor are they victims of their condition.Down Syndrome is a natural disorder coming from a chromosome defect. It is a genetic condition in which a person has 47 chromosomes instead of the usual 46. Which causes mental impairment and physical deformity.For example short stature , broad facial profile and weak muscle tone.It occurs in approximately one in every 800 live births.It is the most frequently occurring chromosomal disorder. Down syndrome is not related to race, nationality, religion or socioeconomic status.(medline plus)
Down syndrome is common within the United States. According to Gould and Dyer (2011), Down syndrome is an example of trisomy due to there are three chromosomes that are present versus two in the 21 position. Meaning, people with Down syndrome have a total of 47 chromosomes instead of the original 46. The body is marked by the effects of Trisomy 21. The effects of Trisomy 21 can lead to defects of physical and mental development. Down syndrome was at first also called monogolism, but now it is more commonly known as Down syndrome. The risk of giving birth to a child with Down syndrome increases with maternal age. A woman at age 30 has a risk of approximately 1 in 1000 in bearing a child who has Down syndrome, a woman at age 35 has a risk of 1 in 500, and at age 40 there is a risk of 1 in 100 (Gould & Dyer, 2011). It is unknown if this is due to the cause by the damage of the oocytes resulting of degenerative factors with aging or environmental substances. Some cases it was to be due to paternal origin also. This disorder can be detected by a positive triple screen test on maternal blood followed by an amniocentesis (Gould &Dyer, 2011).
Down syndrome is a chromosomal disorder that occurs when a baby is born with an extra chromosome in each of their cells. It is the most common of the chromosomal disorders. One in every 691 babies is born with DS (Down syndrome) and there are approximately over 400,000 people living with DS in the United States today. Although it is not genetic, it has been proven that mothers older than thirty-five are more likely to have a baby with Down syndrome. Individuals with Down syndrome have varied cognitive delays, meaning that they learn and develop slower than the average person, but they are still able to live normal lives. Many people with Down syndrome attend school, go to work, and are able to have normal relationships, such as marriage.