Finally, they found a diagnosis, the 22q11.2 deletion syndrome. It can often be a fatal problem. 22q11.2 deletion syndrome appears when there is a missing section in one of the chromosomes found in the DNA. Contrary…
COLUMN 2: Behind Column 1 What causes this disorder? A chromosomal mutation called translocation. Translocation is when the chromosome breaks and a portion of that chromosome reattaches to another chromosome. This chromosome that is affected by this is the 8 and 14 chromosome pair.…
Tay-Sachs disease is a genetic disorder that affects nerve cells in the brain and spinal cord. This condition is caused by mutations in a gene called hexosaminidase subunit alpha(HEXA). The HEXA is a gene that provides instructions for making beta-hexosaminidase that makes a functional enzyme with one alpha subunit. Beta-hexosaminidase is an enzyme that is located in lysosomes, is an important enzyme that breaks down a GM2 ganglioside. Therefore, the lack of the beta-hexosaminidase enzyme results in the accumulation of the GM2 ganglioside in the brain and spinal cord that damages nerve cells.…
My favorite subject that we spoke about in class is when we learned about Osgood-Schlatter Disease because I have this disease. We learned in class that Osgood-Schlatter Disease is when muscles become too tight because of rapid growth in the epiphyseal plate. The epiphyseal plate is a growth plate that is only in children and adolescence. The epiphyseal plate is at the superior end of the tibia by the tibial tuberosity. My doctor told me that this disease effects when I am physically active, which is difficult because I regularly play tennis, an anaerobic activity.…
Even with the abundant amount of disabilities that come with having this disorder, the life expectancy of the affected people is almost normal. The cause of Angelman Syndrome is a genetic mutation in chromosome 15. A person without this disorder would get one gene from their mother and one gene from their father. People with Angelman Syndrome, however, only have one of those genes active in parts of the brain, meaning that gene is either severely damaged or completely missing. In some cases, the child inherits two paternal copies of that gene.…
There are three prenatal diagnostic methods from table 2.4 that I would recommend to a pregnant friend or family member, those would be an ultrasound, a maternal blood analysis, and a MRI. Because an ultrasound is very common, MRI’s are used to scan for brain abnormalities (which is far most the important development issue in children), and from my understanding a maternal blood analysis is when the mother gets her blood drawn and tested, which also seems very important and very safe. I chose these because they seem to cause less harm to the fetus, and they do not have risk of miscarrying a baby. One thing that bothers me in the book is that authors do not communicate well when describing the methods, what genetic defects are they looking…
Boys Don’t Cry is a tragic film based on true story of Brandon Teena casted by Hilary Swank, a transsexual youth who wanders aimlessly leaving his home of Lincoln and finally reaching Falls City, Nebraska where he discovers a new group of friends. Teena Brandon, who was actually a born female decides to reject all of her feminine attributes and decides to lead her life as a man. In Falls City, Brandon surrenders herself for a young woman named Lana starring Chloe Sevigny in the movie. Lana by this time had already become easy target of monotonous life and Brandon has been portrayed as the one who comes to save her from boredom with assurance of travel and fleeing, Lana falls in love with Brandon. Lana, at first does not affirm that Brandon Teena is actually Teena Brandon, a…
Klinefelter Syndrome is a genetic disorder of males caused by the attainment of an extra X chromosome at conception. It occurs in one in every 500-1000 male births but the rate is up to 20 times higher in newborns. It was first discovered in 1942 by a doctor named Klinefelter who published case reports of nine men who had breast enlargement, a lack of facial and body hair, smaller than average testicles and an inability to produce sperm. There are medical researchers that realized the role of the extra X chromosome and confirmed it to be the causative factor. Treatments for males with klinefelter is Testosterone replacement therapy-…
Fragile X syndrome is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics. This condition occurs when there is a mutation of the X chromosome called FMR1. The FMR1 gene provides instruction for making protein that helps regulate production of other proteins and has a role in the development of synapses which are critical for relaying nerve impulses. Fragile X syndrome occurs in both males and females, however females have more milder symptoms. The gene can be passed down from both mother and father.…
Fragile X Syndrome (FXS) is a type of triple repeat disorder that is prevalent in both males and females. FXS is inherited and causes the person to have an intellectual disability (Batshaw, Roizen, & Lotrecchiano, 2013). References Batshaw, M.L., Roizen, N.J., & Lotrecchiano, G.R. (2013). Children with Disabilities (7th ed.). Baltimore, MD: Brookes McDuffie, A., Machalicek, W. A., Bullard, L., Nelson, S., Mello, M., Tempero-Feigles, R., & ... Abbeduto, L. (2016).…
Fragile X syndrome is a genetic condition resulting in different types of growth problems like learning disabilities, difficulty with memory, and thinking skills. Affected individuals usually have a late development of speech and language by age two. Children with fragile X may have anxiety and abnormal behavior such as fidgeting or impulsive actions. They may have ADD, which makes it harder to pay attention and focus on specific tasks. About a third of people with fragile X have traits of autism spectrum disorders that affect communication and interaction with others.…
Sturge-Weber Syndrome (SWS) is classified as multisystem disorder that involve central nervous system, skin and eyes. It is due to the outgrowth of an abnormal non-cancerous mixture of cells and tissues of the blood vessels which creates the blockage or tumor on the specific nerves that are around the forehead, skin and upper eyelid areas. This abnormal growth of blood vessels happens at the most inner layer of the skull that wrap around the brain. As a result, this creates pressure on the brain as well as the central nervous system and causes the physical characteristics of facial port-wine stain (PWS). (Mantelli 2016-NCBI).…
Dustin Smalley Biology 257 May 4, 2016 Multiple Sclerosis What is Multiple Sclerosis? Multiple Sclerosis (MS) is a disease in which the immune system eats away at the protective myelin coating on the nerves causing communication issues within the brain and body. It’s not contagious, but it effects approximately 2.3 million people around the world, usually between the ages of 20 and 50 years. There are different types of MS and a very broad range and severity of symptoms.…
Fragile X syndrome or Martin Bell syndrome is a genetic passed disease that affects the early devolvement of the brain that causes mental retardation and has many of the same physical appearances. Fragile X affects males more often than females. This inherited disease is extremely rare and affects 1 out of 5000 kids. This syndrome is caused by a mutation on the X chromosome more specifically the FMR-1 gene that generally affects the early devolvement of the brain. Many symptoms of this disease include delay in talking, extreme anxiety, and much hyperactive behavior.…
Pregnancy Week 17 Week 17 and you are by now [pretty comfortable with the idea of being pregnant, given that you have undergone it all, the symptoms, the crucial phase, tests and all that matters! While the maternity wear are fitting you well in this week, you look pretty much like a pregnant lady than a lady who is just overeating her heart out and also feel the baby inside you with a lot more confidence! Thus, at the continual of the third tri semester, you would very well be surprised to know a bit more details of what exactly is happening with you and your little one!…