Essay DiGeorge Syndrome- A Genetic Disorder - 952 Words

A genetic disorder, such as DiGeorge syndrome, is an illness caused by one or more abnormalities, which can be passed down through parents, DNA, or mutations. DiGeorge syndrome (DGS) is a rare type of a genetic disorder which is caused by the deletion of chromosome 22. DiGeorge syndrome affects many parts of the body and has a prevalence of 1: 4000 The signs and symptoms of DiGeorge syndrome vary from mild to severe. Symptoms can differ depending on how highly the affected areas are and the severity of those defects. Some signs of symptoms can be noticed at birth, while others are not noticeable until late childhood. Some symptoms caused by DiGeorge syndrome affect facial appearance, such as low set ears, underdeveloped chin, small†¦show more content†¦The deletion of chromosome 22 plays a crucial role in the development of a person. Since the major functions of the body are affected, daily life of someone diagnosed with DiGeorge syndrome has an underdeveloped reading and sp elling comprehension. By the ause of low-average spelling and reading cognition, children with DGS have different learning environments in school. Children with this syndrome have to be put in special classes, because they learn on different, slower levels. On the severity of the disorder, some children have special courses and classes in school so they can reach their full potential. Daily life of someone diagnosed with DGS can vary on the criticalness of the disorder (Simon). Daily life of someone affected with DiGeorge syndrome can result in many different variations. Someone with DGS also have high levels of memory loss. Memory loss would include short term activities, such as the past week. Amnesia occurs mostly in children from the age’s three to eleven, and with maturity, people’s memory will strengthen. Since DGS affects major body functions, someone with the syndrome have slowed motor abilities. As a result of slowed motor abilities, people also have low muscl e tone with causes them to be inactive. Because of the low muscle tone, DGS makes it difficult for someone to perform normal athletic abilities, such as running. As a result of inactiveness;Show MoreRelatedThe Deaths Of Tetralogy Of Fallot1240 Words   |  5 Pagesquite rare with only five out of every 10,000 developing it at birth (National Heart, Lung, and Blood Institute, 2011). It is still important to be familiar with. One reason for the need of understanding the disease is that of all congenital heart disorders it is the one most frequently seen, and the mortality rate is another consideration as 50% will not survive past the age of six should tetralogy of fallot be left untreated (Bhimji Mancini, 2015). Finally, while vast improvements have been madeRead MoreStudy Notes for Advanced Pathophysiology5046 Words   |  21 Pages rate of growth, 3. local invasion, 4. the ability to metastasize Benign tumors- have well-differentiated cells, look like cell of origin, Slow rate of growth (may come to standstill or regress, c/n suppress genetic program for cell proliferation, retains program for normal cell differentiation, grow by expansion, remain localized to origin site, do not have ability to infiltrate, invade or metastasize to distant sites, develop a capsule (creates lineRead MoreCongenital Heart Defects And Infants3105 Words   |  13 Pages(Whaley Wong’s, 1995, pg. 1503). Several genetic factors are also implicated in congenital heart defects, although the influence is multifactorial. The risk of recurrence in families with an affected parent is variable: one to three percent if the father is affected and two to ten percent if the mother is affected. The risk of recurrence in siblings is one to three percent overall. Certain chromosome aberrations, such as Down and Holt-Oram syndromes, are associated with increased risk of cardiacRead MoreChapter 51 Essay4945 Words   |  20 Pagesfungal infection Ans: A Chapter: 51 Client Needs: A-2 Cognitive Level: Application Difficulty: Difficult Integrated Process: Nursing Process Objective: 1 Page and Header: 1562, Phagocytic Dysfunction Feedback: Patients with phagocytic cell disorders may develop severe neutropenia. With the onset of neutropenia the white blood cell count increases and the creatinine clearance decreases. The patient may be prone to a fungal infection but will not present with cellulitis and osteomyelitis. Read MoreFetal Tissues And Its Effects3570 Words   |  15 Pagescells would be used to treat neurodegenerative diseases such as Parkinson’s, Huntington’s disease, and Alzheimer’s disease. More recent breakthroughs show possibilities of the use of fetal tissues for diabetes and an assortment of blood and immune disorders. (Bachoud, 2000) Fetal tissues divide more rapidly than matured tissues, making them better candidates for the experimental medical therapy. (Fackleman,1995) In addition, by using fetal tissues in the transplant, the possibility of the host rejecting