Angelman syndrome

mother's blood. Williams Syndrome Williams syndrome is a rare disorder that can lead to problems with development. It is passed down in the offsprings of families. One of the 25 missing genes is the one that produces elastin, a protein that allows blood vessels and other tissues in the body to stretch. It is likely that missing a copy of this gene results in the narrowing of blood vessels, stretchy skin, and flexible joints seen in this condition. Symptoms of Williams syndrome are:…

Mohammad Ekrama Biology 22 Professor Clark 1october 2016 Christianson Syndrome Abstract: Christianson Syndrome is a super rare disease, it is a recessive X-linked disorder ,that usually affects the human body, specifically the nervous system. There are a lot of symptoms for this disorder like ataxia, seizures, epilepsy, severe mental retardation and microcephaly. Mutations on the SLC9A6 gene cause Christianson Syndrome, this gene is located on the X chromosome. This disorder is usually…

Rett Syndrome Rett Syndrome is an uncommon neurodevelopmental disorder that is first discovered when a child is still an infant. This disorder is mostly found in girls, rarely is it ever found in boys. Rett Syndrome cannot be inherited from an early on ancestor, and statistically this syndrome affects one in every 10,000 to 20,000 children. Rett Syndrome has many side effects such as, teeth grinding and delayed development. Rett Syndrome is named after a physician and author who first discovered…

years, there is no explanation for this continuing increase. Some children with autism have an identifiable genetic condition that affects the brain development. Disorders includes Fragile X syndrome( which causes intellectual disability), Angelman syndrome, tuberous sclerosis, chromosome 15 duplication syndrome and other single-gene and chromosomal disorders. No medical test can diagnose autism, the child may be diagnosed by a developmental pediatrician, psychiatrist, or psychologist, the child…

Overview: What is Williams Syndrome? Definition: Williams Syndrome is a genetic disorder, resulting from the deletion of 26 or more genes one chromosome number 7 (Mervis et al., 2000). That seemingly small loss can affect numerous parts of a person’s physical and mental health, as well as social behavior and sensory perception (Genetics Home Reference, 2014). Diagnosis: Williams Syndrome is a genetic condition that a child is born with and it can impact a child’s prenatal development as well…

The speaker Adrienne Bashista gave a very insightful speech about what Fetal Alcohol Syndrome is and how it is caused. Before our speaker told us about her son, I had very little knowledge about what FASD was. I now realize how severe FASD is and how even the slightest consumption of alcohol can affect a fetus during pregnancy. I became aware that FASD is a rare syndrome that only 2 to 5 percent of the population have. This statistic surprised me due to a large amount of woman who may drink when…

Williams Syndrome (WS) is a rare genetic disorder that affects approximately 20,000 people in the United States. This condition is present at birth. The causes of Williams syndrome is due to the deletion of 26 plus genes on one of an individual’s chromosome #7. Individuals born with Williams syndrome share a number of common neurological, medical, and behavioral characteristics as well as common facial…

Fragile X is a syndrome that I had little to no knowledge about before the presentation that Denise Devine gave us. From the presentation, I learned an array of information that will be helpful in my future. Denise touched upon a few topics that are important when understanding Fragile X syndrome. Fragile X the most common forms of mental impairment and is an inherited syndrome that is one of the leading developmental disabilities. One significant fact that is surprising is that Fragile X became…

appreciate. The complete tender point exam was performed and he is positive in 12 of the 18 classic tender points. He also has some induration over the right trapezius tender point that is more classic for the trigger points of a myofascial pain syndrome than the tender point of fibromyalgia. Other interesting historical…

I think that the author R.J. Palacio chose the song Beautiful Things for the Miranda section because Miranda alway say that Auggie is beautiful and is like a brother to her. I think that because on page 165 it says “ I've known Auggie since I was six years old. I've watched him grow up. I've played with him. I've watched all six episodes of Star Wars for his sake, so I could talk to him about the aliens and bounty hunters and all that. I'm the one that gave him the astronaut helmet he wouldn't…