Genetic disorder

gene HTT that codes for this protein becomes mutated (mHTT), it causes what is known as Huntington disease (HD). This is an autosomal dominant disorder meaning only a single gene needs to be altered in order to cause this disease (Huntington disease, 2016). If there is one parent affected, each child has a 50/50 chance of inheriting this disorder. The genetic defect is on chromosome 4 and causes the DNA sequence CAG trinucleotide to repeat more than it should. So instead of repeating 10 to 28…

A family history has many factors in common that play a critical role in genetic disorders. Understanding fully the hereditary contributions of the illness can help the family identify their potential risk factors of inheriting the disease (Kaakinen, Coehlo, Steele, Tabacco, Hanson, & Rowe, 2014). Throughout this paper I will discuss a genetic disease passed down through a three generation family, discussing the family’s health problems, ethnic history, their understanding of the disease and…

What is genetic testing? Genetic testing is a scientific and medical testing where scientists (change scientists to something else) identify for changes in a person’s genes, chromosomes or protein. It is considered when someone wants to identify health risks, allowing the doctor to make recommendations to their health and decrease their chance in developing the certain disease, or to test to see if the person has other genetic conditions, which would impact their chance of passing on or…

law that requires mandatory genetic screening of both parents in preparation of having children or if the parents give birth to a child with genetic disorder include: • Detect susceptibility to a genetic disorder • Reduce medical cost through prevention • Genetic test results can help parents make decisions about having children or terminate a pregnancy • Promptly diagnose of existing genetic disease • Newborns and their families with an identified genetic disorder will be offered prompt…

There are many factors that are considered as a potential cause of human diseases. Most of the diseases result from a complex interaction between an individuals genetic make-up, lifestyle and environmental agents that he or she is exposed to. Family history is definitely one of the most potent risk factors. A person inherits a complete set of genes from their parents as well as a vast array of cultural and socioeconomic experiences from their family. Family history is thought to be a good…

Progeria also known as Hutchinson-Gilford Progeria syndrome is an extremely rare genetic disease where a person is born with the characteristics of an aged body. The word Progeria comes from the greek words “pro” meaning premature and “geras” meaning old age. This genetic disease only occurs in an estimated 1 in 8 million individuals, and there are no hereditary factors or environmental factors which affect the cause of progeria. The average life of an individual with Progeria is usually between…

For our table clinic we decided to research Marden-Walker syndrome. Marden-Walker syndrome is a rare inherited connective tissue disorder (3). This disease involves the oral cavity, facial features and other body parts. This disorder has distinct facial features that can allow you to differientiate this disease from others. Marden-Walker syndrome is a very rare disease. It affects males more often then females (4). There have only been twenty reported cases of this disease (4). Specific…

Impacts of Genetic Screening For Parents Genetic screening is defined as "any kind of test performed for the systematic early detection or exclusion of a hereditary disease, the preposition to such a disease or to determine whether a person carries a predisposition that may produce a hereditary disease in offspring." (Godard, Beatrice et al.) Genetic screening is commonly performed for reasons associated with fertility and pregnancy, and, being a relatively new frontier in genetic research,…

XYY Syndrome This syndrome affects males. It usually occurs during birth. Males usually live without knowing they have it. XYY syndrome is a disease that makes you very tall. XYY syndrome is a genetic condition in which a human male has an extra male (Y) chromosome, giving a total of 47 chromosomes instead of the more usual 46. This produces a 47,XYY karyotype, which occurs every 1 in 1,000 male births.en.wikipedia.org/wiki/XYY_syndrome Xyy syndrome was discovered by a man named Sandberg in 1961…

discovering a genetic marker that could indicate inherited disorders linked to chromosomes, such as Down’s Syndrome, Huntington’s Disease, and Tay-Sachs Disease (Vaughn, 2013, p. 566). Since then, prenatal genetic screenings have become widely accessible through simple, low-risk procedures such as carrier testing, blood tests, and ultrasounds. These procedures are only capable of reporting the risk for inheriting abnormalities (Prenatal Genetic Screening Tests 2016). On the other hand, prenatal…