Downs's Syndrome As A Congenital Birth Defect

891 words - 4 pages

Many children every year are with some sort of Congenital Birth Defect. In fact, according to an article written in Children’s Health on NBC News website, eight million documented yearly, suffering from some type of birth defect. A particular Congenital Birth Defect that relates close to home is Downs’s syndrome. My Aunt Carolyn was diagnosed with Downs’s syndrome at birth and has struggled in many ways growing up including but limited to her health, making friends, and learning disabilities The National Downs’s syndrome Society also known as NDSS, is a society that researches information on the birth defect of Downs’s syndrome and aims at informing others of the causes, symptoms, the three different types, how common it is, when it was discovered and by who, and what impact it has on society. The organization states that Downs’s syndrome occurs when an individual has full or partial extra copy of chromosome 21.
Some general characteristics that The National Downs’s syndrome Society has recognized but not all diagnosed with Downs’s syndrome exhibit are low muscle tone, upward slant to the eyes small and arched palate, congenital heart disease and larger toes widely spaced. Stated in NDSS, recent studies state that one in 691 babies in the United States is born with Downs syndrome, making Downs syndrome the most common Genetic Condition. Approximately 4,000 Americans have Downs’s syndrome and about 6,000 babies are born in the United States yearly.
Yearly studies have led to a broader knowledge of this Congenital Birth Defect, for example in the later years of the 19th century John Langdon Down published in a scholarly work a precise portrayal of an individual with Downs’s syndrome. Another, more recent researcher by the name of Jerome Lejeune observed 47 in the cells of the individuals with Downs’s syndrome and even more recent in year 2000 a major accomplishment from a team of international scientist successfully identified and catalogued each of the approximately 329 genes on chromosome 21 and the accomplishment has led to great advances in Downs’s syndrome research.
As mentioned before there are three types of Downs’s syndrome: National Downs syndrome defines the three as Trisomy 21, Translocation, and Mosaicism and provides an explanation of how the changed initially occurs. Trisomy 21 caused by an error in cell separation. In translocation, a portion of chromosome 21 breaks off during cell division and attaches to alternative chromosome, normally chromosome 14. While the total number of chromosomes in the cells carry on as 46, the occurrence of an extra part of chromosome 21 causes the physical appearance of Down...

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