1Hereditary and Cardiovascular Disorders and DiseasesAlyssia OrtizBachelor of Science in Nursing (Pre- Licensure), Aspen UniversityPrinciples of Health and DiseaseJeanette PlodekJune 28, 2021
2Hereditary and Cardiovascular Disorders and DiseasesEach person around the world is made up of their own genetics. The different make- upsof genetics is what makes you different from the person next to you. Things like your hairtexture, eye color, and skin color are all different due to the genes that get passed on down thefamily tree. But, there are some instances where the genetic make- up has some defaults andcreates disorders that become hereditary. The defaults in the genetics can cause some differencesin appearances and some can cause complications with the functions of our heart. Going forwardwe will dive into hereditary and cardiovascular disorders and disease that are affected by thefaulty genetics that happen all around the world.Genetic and Natural Disorders of the Human BeingAs a doctor there may be difficult and challenging situations where you are going to haveto break some news to families, friends, and parents. In this case we have Kate’s parents, who areabout to learn some information about their daughter. Kate has shown some differences inappearances that separate her from kids her age. Things such as eyes that are wide- set andslightly slanted, her nose is short and flat, a crease across her palm, and a finger on her hand isunusually short. Advising and educating Kate’s parents on their daughter’s diagnosis will helpnavigate them to deal with the impacts it may have on not only their daughter’s life, but as wellas their lives.Kate’s Genetic DisorderAs stated previously Kate’s signs and symptoms could lead to a diagnosis of an abnormalchromosome disease called Down syndrome("Down syndrome," n.d.). Down syndrome is theresult of the existence of an extra chromosome giving during the formation of one sperm cellwith one egg cell. This syndrome is reoccurring in the U.S every 800 to 1000 births and affects
3an equal number of boys and girls. The risks of conceiving a child with Down syndromeincreases when the mother’s age is 35 or older ("Down syndrome," n.d.).Etiology, Life Impact and Genetic TestingDown syndrome cause is hereditary meaning there is an abnormality in Kate’s genes orchromosomes (Zelman et al., 2010). Another name for Down syndrome is trisomy 21. Trisomy21 is another name because when the sperm and egg are forming each bring a total number of 23chromosomes together to have a total number of 46 chromosomes. When one of the parentsbrings in the extra chromosome it is counted as the 21 first chromosome and is inherited as atriplicate.The extra chromosomes gives an amount of 24 chromosomes to bring a total betweenthe two parents to 47 chromosomes ("Down syndrome," n.d.).