Chromosome 15

Chromosomes are identified to be found within the nucleus as long thin strands of DNA compiled together, and arranged from largest to smallest based off their sizes [2]. In addition to this, a typical chromosome usually contains a short and long arm. However, in a Chromosome 15 deletion, the focus is within the long arm of the strand where the genetic material becomes lost. A variety of detrimental effects can arise depending on which portion of the long arm is deleted as well. One type of deletion

Angelman Syndrome: A Case Study Amy Nicole Bishop, MSNA Westminster College December 8, 2017 nicolebishop@outlook.com Keywords: Angelman syndrome, pediatric, GABA receptors, anesthesia, chromosome 15 Angelman syndrome is a rare genetic disorder caused by a mutation on chromosome 15.1 This syndrome is characterized by severe developmental delays, seizures, ataxia, craniofacial abnormalities and a “happy demeanor.”1&2 The Gamma-aminobutyric acid (GABA) system in the central nervous system

(2017), Angelman Syndrome, also known as Happy Puppet Syndrome is a “complex genetic disorder that primarily affects the nervous system.” Angelman Syndrome occurs when there is a change to the E3 Ubiquitin Protein Ligase Gene (UBE3A) located on chromosome 15. Angelman Syndrome was first discovered by Harry Angelman, a Physician in 1965, when he witnessed three young children who represented similar symptoms. They all had bright, happy personalities, along with stiff movements, lack of speech and seizures

journals. Angelman Syndrome was not heavily researched until the 1980’s when reports of this disordered appeared in the United States. In 1987, researchers found that the cause of Angelman Syndrome was from a missing portion of the genetic code on chromosome 15. Angelman Syndrome is a genetic disorder that

a combination of genetic test can reveal the chromosome defects. There are three different defect tests may reveal: parental DNA pattern, missing chromosome, or gene mutation. Parental DNA pattern test screens for three of the four genetic defaults that cause this syndrome. To find out if the chromosome is missing either a fluorescence in situ hybridization (FISH) test or a comparative genomic hybridization test (CGH) can show if portions of chromosomes are missing. It is rare if Angelman syndrome

75% of the population, is resulting from de novo maternal deletions involving chromosome 15q.11.2-913. Second, approximately 25% of the population results in mutations in gene encoding the ubiquitin protein ligase E3A gene. Third, there are 2-3% whom results in AS through imprinting defects. Lastly, 2% of the population results from uniparental disomy of 15q11.2-913, where the child receives two copies of a chromosome from parent and no copies from the other parent. The image below (Figure 1) shows

Disease Background Article notes An older term for Angelman syndrome is “happy puppet syndrome” Neuro-Genetic Disorder. This was primarily named after the English pediatrician, Harry Angelman, who discovered it in 1965. Harry Angelman, was a pediatrician working in Warrington, England, he first reported three children with this condition in 1965. Angelman chose the title "Puppet Children" to describe these cases as being related to an oil painting he had seen while vacationing in Italy. Angelman

syndrome, by a problem with the number of chromosomes that the person has. Chromosomes are structures similar to a thread which are in the midst of a cell that carries the genes. Down syndrome is a genetic alteration that occurs by the presence of an extra chromosome. The cells of the human body have 46 chromosomes in 23 pairs distributed. One of

Genetics is the study of heredity and the different inherited characteristics (Dictinonary.com). All humans are made up of cells. Each cell contains chromosomes. Chromosomes are genetic material that determine many things about a person. For example, their height, hair color, eye color, sex, and personality traits. Deoxyribonucleic acid is in charge of the transmission of genetic materials. A single, cell develops into the large organs that is a human newborn infant in 266 days (Infant and Early

experimented in identifying mitosis cells. The three objectives we were observing were mitosis in animal cell, plant cell, and staining chromosomes in dividing cells. First off, my partner and I removed two inch-ling roots and placed it in the prepared 3 ml of methanol-acetic acid fixative solution in a small vial. We began with this first step because the roots need to be fixed for 15 minutes at 60oC in an incubator. We made two sample, in case we made an error. After placing the roots in the incubator, we