Disability Paper RING 14
CHROMOSOME SYNDROMES 14
What is RING14 syndrome?
RING 14 indicates an aberration with respect to chromosome 14, which takes the form of a ring as soon as its two extremities, the long arm and the short arm, fuse together. The fusion occurs through two ruptured events, one at the extremity of the short arm and the other at the end of the long arm, which usually leads to a partial loss of the informative genetic materil of chromosome 14. The chromosomal abnormality can affect all cells or Mosaic with a cell line
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For this reason the diagnosis can not be based on a simple chromosomal examination, but requires pecific tests of molecular genetics.
All conditions of the syndrome associated with structural or functional abnormalities of chromosome 14 are rare. However, it is feasible that their frequenc is underestimated, particularly in relation to RING syndrome 14. In fact, in RING syndrome 14, phenotypic abnormalities are generally mild and the growth delay is not marked or absent, so the indication of the chromosomal examination Can be escaped or be requested late.
Clinical and genetic characterization of all these conditions, possible only by comparative analysis of a wide variety of cases, will improve the knowledge in the same families and specialist doctors, and may also allow a more effective
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It is necessaryto specify that all these symptoms, even if they are not immediately recognizable as specific to the syndrome, still suggest a chromosomal pathology and therefore require the realization of a simple karyotype. The "RING 14" anomaly is perfectly diagnosable with a standard chromosome examination performed at any site even though its precise characterization at the molecular level requires successive studies in specialized
Bullying is a serious issue that can occur to various people of different age and background. It is considered a serious problem because of the long lasting health problems that comes with it. The many effects of bullying such as, depression and alcoholism can cause changes in our genes which can possibly be passed on to the future generations. In Sharon Moalem’s essay “Changing Our Genes: How Trauma, Bullying, and Royal Jelly Alter Our Genetic Destiny” he discussed about the effects of bullying on the victims and how it causes gene changes. It is important to know how to prevent bullying as the effects can influence a person mentally and genetically which can be passed on to future generations later on.
P3 – Describe the investigations that are carried out to enable the diagnosis of these physiological disorders
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
...rrier. There are available tests you can take to determine the possibility of your children receiving the disease.
The disease Angelman Syndrome, named after the physician Harry Angelman, was first diagnosed in 1965. It is now known that the disease results from the loss of function of UBE3A, a gene. One is normally inherited from each parent. The copy inherited from the mother is active in certain areas of the brain. If this copy of the gene UBE3A is lost due to chromosomal change or gene mutation, the lost gene will not have active copies in parts of the brain. A majority (70%) of Angelman syndrome cases happen when a segment of the maternal chromosome 15 is lost or destroyed. A minority of the disease is caused by a mutation or loss of function of the mother’s copy of the UBE3A gene. The majority of cases result from uniparental disomy, which is when the son or daughter inherits two copies of chromosome 15 from his or her father. Translocation, or chromosomal rearrangement, can also cause the disease. Most cases of this disease are not inherited, instead are a result of deletion in the maternal chromosome 15. Across 1. 2 copies of chromosome 15 are inherited from the father Down 1 Person who first diagnosed this disease 2 Disease the magazine is about 3 A gene 4 a minority of this disease is caused by this 5 Chromosomal rearrangement DISEASE BACKGROUND PAGE 1
In 1980, the first reported case of Angelman disease was reported in America. As more and more children were being diagnosed with Angelmans disease, a professor from the University of Florida, Dr. Charles Williams, started researching the disease. Years went by with no progress, but then in 1987 Dr. Williams discovered that a code was missing from chromosome 15. This new information was a breakthrough, but it would still until 1997 to figure out that the UBE3A gene on chromosome 15 was mutilated or missing in patients diagnosed with Angelman disease. Since 1997 doctors and scientists have been able to find that Angelman disease is a neuro-genetic disorder which means that Angelman disease is very complex and attacks the nervous system. They have also been able to determine that the disease is rarely inherited and that the mutilation of the UBE3A gene occurs during sperm and egg formation.
Because Williams Syndrome is very uncommon within a large crowd among people, the causes that are known to trigger the disorder are very few. The causes or conditions that are known to trigger Williams Syndrome is by the deletion of twenty-six to twenty-eight genes on chromosome #7. Many people may conclude that just because Williams Syndrome is a “genetic” disorder meaning that it has to be inherited from their parents are incorrect. Most people may not inherit Williams syndrome because the chances of his or her child to inherit the syndrome is a low 50/50 chance. That is because when the deletion of the 26 – 28 genes that takes place within the chromosome number seven are of what randomly chosen events that particularly occur in the male or female eggs or sperm .When dealing with Williams syndrome many symptoms may come upon the person with this disorder. Some of the symptoms may be not be that eye catching or life threating but some, however some can be life threating. In resulting the person to ...
The most common way of getting Angelman syndrome is through chromosome deletion. This is responsible for about 68% of all cases o...
Angelman Syndrome is a rare genetic disorder characterized by neurological and developmental issues. Dr. Harry Angelman discovered the syndrome in 1965. It was formerly called “Happy Puppet Syndrome” due to the clinical features possessed by those affected. Dr. Angelman observed those affected as appearing normal upon birth but eventually showing signs of development disabilities. Angelman Syndrome mainly targets the nervous system and can be detected in infants as early as six months. Typically, the first noticeable sign is usually feeding problems or a delay in development. It is caused by a deletion or mutation, such as translocation, in Chromosome 15, long arm q, band 12. Some references note the affected region as bands 11.2-13. This area encodes for the UBE3A gene. Usually, the body uses information from both copies of a gene. The activity of each gene copy is dependent on whether it was passed from your mother or from your father. This parent-specific gene activity is called imprinting. In a few instances, only one copy of a gene pair is active. For the UBE3A gene, only the maternal copy is active in the brain. This is an example of genomic imprinting in which the body only recognizes or requires one copy to be active. In Angelman Syndrome, the body only recognizes the maternal copy of chromosome 15. However, there have been a few rare incidences in which uniparental disomy was the cause of acquiring the syndrome. This occurs when both copies of chromosome 15 were inherited from the paternal side.
The "Genetic Screening" Genetic Screening. NDSU,. Web. The Web. The Web.
This rare genetic disorder has multiple alternative names. The shortest one is referred to as CFC syndrome, but the other two are just as long as the original term for the disorder. They are known as Cardio-facial-cutaneous syndrome and Facio-cardio-cutaneous syndrome. It was first construed in the year of 1986 by J.F. Reynolds and associates at two places; the Shodair Children’s Hospital in Helena, Montana and the University of Utah. Its explanation was concluded from the examination of eight unrelated patients who all shared many of the same characteristics. They all had psychological disabilities and analogous aberrations in their appearance of their face, hair, skin, nails, and heart.
Epigenetics is the study of both heritable and non-heritable changes in gene translation, which do not stem from mutation. Epigenetic alterations to DNA may occur in several different ways; histone modification, DNA methylations, expression of microRNAs, and changes of the chromatin structure (Ntanasis-Stathopoulos et al). Depending on their presentation, they may be passed on to offspring. The exact mechanism of heritable epigenetic modification has not been discovered, but all of these alterations may have some impact on a wide range of disorders and have far reaching implications in the medical field. The study of epigenetics seeks to answer the age old question of whether nature or nurture is responsible for our phenotype, and it has arrived at the answer that in fact, both are. The discovery of epigenetic changes may lead us to cure many disorders, and even personality problems.
Girls with this syndrome may have many middle ear infections during childhood; if not treated, these chronic infections could cause hearing loss. Up to the age of about 2 years, growth in height is approximately normal, but then it lags behind that of other girls. Greatly reduced growth in height of a female child should lead to a chromosome test if no diagnosis has already been made. Early diagnosis is very importance in order to be able to give enough correct information to the parents, and gradually to the child herself, so that she has the best possibilities for development. Early diagnosis is also important in case surgical treatment of the congenital heart defect (seen in about 20 per cent of cases) is indicated.
The list of IB traits involve terms that a successful student should learn to adapt throughout their school years. Traits such as caring, risk-taker, open-minded, and balanced relate more to one’s personal life than traits like knowledgeable, thinker, reflective, principled, inquirer, and communicator which are more focused on the academic portion of one’s life. Although not everyone will begin the program with all these traits in their pocket, all students should grow and adapt towards new possibilities and a new personality than originally.
...omosomes or genetic/chromosomal disorders. The most common type of genetic or chromosomal disorder is Down Syndrome or trisomy 21 (Cherry, n.d.). The condition occurs when a child has three chromosomes at the site of the twenty-first chromosome rather than the normal two. Some of the most common signs of Down Syndrome include round face, thick tongue, slanted eyes, hearing problems, heart defects, and intellectual impairment.