trisomy 21 years old down syndrome essay
Trisomy 21 years old is caused, as the name suggests, by the triple of the twenty first chromosome. Family genes which, simplified, contain the blueprints for the cellular structure, are grouped along rod-like structures called chromosomes. Normally, the center of each cell contains twenty-three pairs of chromosomes, 50 % of which are inherited from each parent. In Straight down syndrome (DS), however , the cells usually contain not 46, yet 47 chromosomes. This extra genetic material, in the form of extra genes over the 21st chromosome, results in DS.
The estimated prevalence of Straight down syndrome can be between 1 in one particular, 000 to at least one in you, 100 live births. Each year approximately a few, 000 to five, 000 youngsters are born with this chromosome disorder. It truly is believed you will discover about 250, 000 family members in the United States whom are affected by DS. (Berg, 614) Discussed in this paper is a more detailed information of the pathophysiology of Straight down syndrome, as well as the discovery, possible causes, physical features, linked conditions, conceivable treatment, electroneurodiagnostic corollaries, and psychosocial issues.
Down syndrome or Trisomy 21 continues to be alluded to in art, literature and science for hundreds of years. One of the more interesting of these is definitely the Changeling in Gaelic fable.
It was believed that after a child was developed with the dysmorphic characteristics today associated with DS i. at the. epicanthal folds, simian wrinkles, small ear etc ., an elf or perhaps evil spirit experienced replaced the infant that was meant to be theirs with the children of a mischievous creature. Nevertheless , it isnt until 1866, that a medical professional named David Langdon Straight down published an essay in the uk in which this individual described a set of children with common features who were specific from other children with mental retardation. Down was superintendent of an asylum for children with mental retardation in Surrey, England if he made the first difference between children who were cretins (later to be found to have hypothyroidism) and what he referred to as Mongoloids.
Down based this unfortunate name on his notion why these children looked like people from Mongolia, who had been thought after that to have an caught development. This ethnic insult came under open fire in the 1960s coming from Asian hereditary researchers, plus the term was dropped from scientific use. Instead, the disorder became named Downs affliction. In the 1970s, a north american revision of scientific conditions changed it simply to Straight down syndrome, as a result of insinuation of ownership brought on by the possessive apostrophe, although it is still known as Downs in Europe. The causes of DS were much believed over during the first part of the twentieth century. The first to guess that Down syndrome could possibly be chromosomal in nature had been Waardenberg and Bleyer during the 1930s.
However it isnt until 1959 that Jerome Lejeune and Patricia Jacobs, working independently, first determined the cause to be trisomy (triplication) of the twenty-first chromosome.
To comprehend the pathophyisology of Trisomy 21 you first have to understand the standard structure of chromosomes. Chromosomes are thread-like structures consisting of DNA and also other proteins. They are present in every single cell in the body and carry the innate information essential for that cell to develop. Genetics, which are units of information, are encoded inside the DNA. Human being cells ordinarily have 46 chromosomes, which can be set up in twenty-three pairs.
Of these 3, 22 are alike in males and females, these are called the autosomes. The 23rd match are the sex chromosomes (X and Y). Each member of any pair of chromosomes carries precisely the same information, because the same genetics are in the same places on the chromosome. However , variations of that gene (alleles) might be present. (Example: the genetic information to get eye color is actually a gene, the variations to get blue, green, etc . are the alleles.
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Human skin cells divide in two ways. Is ordinary cell division (mitosis), by which the body grows. From this method, a single cell becomes two cellular material, which have the exact same number and type of chromosomes while the father or mother cell. The second method of cell division takes place in the ovaries and testicles (meiosis) and consists of a single cell breaking into two, with the resulting cells having half the quantity of chromosomes of the parent cell. So , usual eggs and sperm cells only have twenty-three chromosomes rather than.
