Research Paper On Patau Syndrome

“Eating disorders are a serious mental illness, not a lifestyle choice.” Millions of people have to deal with inner demons on a daily basis, some more serious than others but one that is severe, is Pica disorder. Pica disorder is an eating disorder where people have an appetite for non-nutritive, inedible materials and become addicted to eating items such as clay, nail polish, drywall, light bulbs and much more. This disorder causes victims to eat unimaginable things and causes many medical problems in the process. Some doctors believe that this disorder is just complication of the mental psyche, but there is more underlying issues that cause this disorder. Thus, Pica disorder is caused by a combination of biochemical,

Prader-Willi and Angelman Syndrome are two genetic disorders with vastly differing phenotypes linked by missing genetic imprints on the 15th chromosome’s q arm between regions 11 and 13 . While both orders result in mental deficits, their symptoms are otherwise segregated from the other in their entirety. The differences in the disorders are the result of differing DNA methylation patterns present in maternally and paternally inherited DNA. If the deletion occurs in the mother’s DNA, then Prader-Willi Syndrome appears. When the deletion occurs in the father’s DNA, Angelman Syndrome is the result.

Trisomy 13 is a very terrible disease to have. The disease causes many deformities. You would have a very deformed body. The disease happens when there is a third thirteenth chromosome. Instead of the normal two, there would be three. The symptoms are heart, brain, spinal cord, and bone abnormalities, also a hole in the iris lip and pallet. Along with those are small head, eyes, and lower jaw, then there is close-set eyes that can fuse into one and low-set ears.

Never had an idea was what Prader Willie Syndrome and how serious is this condition. You can actually observed two individual that are diagnose with PWS but are two totally different individuals. At the beginning of the documentary you can observe that Joe was struggling being away from home and had too much anger, and Tamara have gone through a lot in her life and not having her mom support has being very hard. The program in general is a good program, which it promote healthy eating and it that aspect it has help Joe and Tamara loose the weight, but there are things that I am not in accordance with the program, if this individual have a hard time with romance relationship I don’t think they should be encourage to date. I was surprised when

address whether the disease is inherited by the parents, or if it is a chromosomal error. Finally,

Hello everyone, I decided to research Paget's Disease for this week's unit 7 discussion. Paget's disease is a chronic bone disorder that typically results in enlarged deformed bones due to excessive breakdown, and formation of bone tissue that can cause bones to, weaken and may result in bone pain, arthritis deformities, or fractures. Paget's disease was named after a great English surgeon and pathologist Sir James Paget, who discovered this condition in 1877. Men and women are equally affected by this disease. Because Paget's disease can be passed on after age 40, brothers, sisters, and children of someone with this condition may want to have an alkaline phosphatase blood test every 2 or 3 years to screen for Paget's disease.

Imagine that over the course of the last four years a strange disease killed half of the people in the United States. The mysterious illness caused those inflicted to cough up blood and pus, and blood-filled growths to develop on their bodies. The disease spread easily from person to person and though doctors gave a lot of advice, nothing worked to stop it.

Prader-Willi Syndrome is a genetic disorder that is passed down maternally. The paternal genes of the chromosome 15 in the region of q11-q13 are deleted or unexpressed. The result of these deletions carries distinct phenotypes that differentiate PWS from other disorders (Böhm, 2014). Some characteristics are a short stature, and specific facial features that tend to make the affected persons resemble one other such as seen in Down syndrome. This typically includes “almond-shaped eyes, a thin upper lip, a downturned mouth, a narrow bridge of the nose, narrow forehead, and a disproportionately long, narrow head (dolichocephaly). Distinctive facial features can be noticeable shortly after birth or may develop slowly over time,” (Cassidy,

Kids with this syndrome have side-to-side curvature of the spine. This disorder causes development disabilities and nerve-related symptoms. This syndrome is most often caused by problems with a gene located on chromosome 15 called the ubiquitin protein ligase E3A (UBE3A) gene. Typically, kids are happy, excitable demeanor, with frequent smiling, laughter, and hand flapping movements, difficulty sleeping, and problems with movement and balance. Kids with this disease have distinctive facial features.

The genetic mutation that I am doing is called Proteus Syndrome. Proteus Syndrome is a highly variable and is named after Greek-god Proteus who could change his shape. Only a few more than 200 cases have been confirmed worldwide with estimates that about 120 people are currently alive with the condition. Those most readily diagnosed are also the most severely disfigured bones, muscles, fatty tissues, and blood and lymphatic vessels. Proteus syndrome is an overgrowth disorder caused by a rare genetic mosaicism.

Scientist have been trying to find a way to cure Trisomy 13 but none have succeeded There have been a couple ways to help diagnose this disease, one being an abnormal heart placement and another being MRI scan may show a problem with brain structure. Sadly there

Special genetic tests are able to detect abnormalities in the baby's chromosomes that are characteristic of Prader-Willi syndrome.

At 13 days of life, this young male was admitted to the Neonatal Intensive Care Unit with multiple congenital anomalies including cleft lip and palate, sagittal synostosis, and coarctation of the aorta. A 550 G-band chromosome analysis revealed a karyotype of 46,XY,der(16)t(15;16)(q24;p13.3), consistent with an unbalanced translocation. A whole genome CGH+SNP microarray further defined the chromosome abnormality as a gain of at least 26.83 Megabases at the telomeric region of chromosome 15q and a loss of at least 1.13 Megabases at chromosome 16p13.3 including the alpha globin

Patients born with Jacobsen syndrome are born on term about 60% of the time, with premature births occurring in approximately 30% of cases reported, finally post term deliveries finish it off with about a 10% occurrence. Complications during birth happens nearly half the time, coming in at around 46% of the time with abnormal

What is Barth syndrome? Barth syndrome is a rare genetic disorder that primarily affects the heart and muscles. It occurs exclusively in males starting during infancy or early childhood. “Barth syndrome is caused by mutations in the TAZ gene and is inherited in an X-linked recessive manner.” (raredisease.info.nih.gov) Some of the main characteristics include abnormalities of the heart and low levels of certain white blood cells (neutrophils) that help fight bacterial infections; and, growth retardation which leads to short stature.