Down Syndrome – Genetic Disease

Down syndrome is a genetic disorder that occurs in 1 in every 800 births (History of Down’s Syndrome, p1). A person with down syndrome has certain facial features and disorders that differ from someone without the disability. The genetic disorder causes many challenges for the person effected, but it does not hinder them from leading a long life.

Down syndrome was previously known as Mongolian Idiocy until 1965 (History of Down’s Syndrome, p1). The name down syndrome came from a man named John Langdon Down, who was the medical superintendent of the Royal Earlswood Asylum for Idiots in Redhill, Surrey (History of Down’s Syndrome, p1). John began examining the plates and tongues of his residents which brought him to the conclusion that 16 cases presented tongues with a sodden appearance (History of Down’s Syndrome, p1). This lead to the discovery of the 3rd copy of chromosome 21 in 1959 (History of Down’s Syndrome, p1).

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Down syndrome is caused by a 3rd copy of chromosome 21 and has 3 different types. According to Amanda Perkins (2017), Trisomy 21 is the most common caused by and error in cell division, referred to as nondisjunction, leading the individual to be born with an extra copy of chromosome 21 (p2). When the cells divide, the extra chromosome is repeated in all cells during trisomy 21 (Perkins, 2017, 2). This means that in every cell in the individuals body, there is an extra copy on the 21st chromosome.

The second form of down syndrome is called translocation. Translocation is a rare form of Down Syndrome where a long strand of the 21st chromosome is attached to chromosome 14 (Perkins, 2017, 2). This form of down syndrome is different, because the individual still has only 46 chromosomes. The strand of chromosome 21 that attaches to chromosome 14 is where the third copy of DNA occurs. The third copy of chromosome 21 is what causes the individual to have down syndrome.

Mosaicism Down syndrome is the rarest type of down syndrome and occurs when not all cells have 47 chromosomes (Perkins, 2017, 2). In other words, some of the individuals cells do not have enough chromosomes, but some have too many causing the extra copy of the 21st chromosome.

Individuals with down syndrome have many health issues and characteristics. According to Perkins, many individuals have attention problems, OCD, and tantrums, but share easily, display patience, and are interactive in group settings (p3). Individuals with down syndrome usually have a hard time concentrating on one task and easily get side tracked with something more interesting. They also are very particular over the things they can control and become easily upset if something is not done to their standards. People with down syndromes are most likely to be social butterflies, and they will always look for attention or others to interact with them.

Autoimmune diseases are extremely common in individuals who have Down syndrome. Celiac disease and hypothyroidism take part in those autoimmune diseases (Occurrence of Hypothyroidism, Diabetes Mellitus, and Celiac Disease, 2018, p3). Celiac disease occurs when someones body has an immune reaction to eating gluten which is a protein found in wheat, barley, and rye (Celiac Disease). When the individual eats gluten, it damages the small intestine and causes blistering skin rashes, mouth ulcers, acid reflux, and heartburn (Celiac Disease).

Congenital heart defects are one of the most common defects in individuals with Down Syndrome. According to the Journal of Intellectual Disability research, CHD occurs in almost 50% of cases (p1). Heart valve issues or a hole in an individuals heart are both forms of CHD.

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