Smith Magenis Syndrome Research Paper

Noonan syndrome is a disorder caused by a genetic mutation that causes various parts of the patient’s body to develop abnormally. The condition occurs when a parent passes on an affected gene to their child that produces constantly active proteins, leading to a disruption in the process of normal cell division and growth. Science currently knows of eight genes in which a mutation can cause the disorder. In some cases, there is no family history and the mutation is spontaneous.

This syndrome is tested at birth with fluorescent in situ hybridization or FISH. With blood samples, they test the blood for the deletion of chromosome 7. FISH checks if many as of 22-26 genes are deleted. Because there is no cure for this syndrome, you will most likely have physical therapy and early education to help early development symptoms like speech delays and heart problems. This syndrome is not caused by environmental factors, it is completely genetic and NOT the parents fault.

This literature review is focused on the characteristics, prevention, assessment, and intervention of TCS. An assortment of different sources were utilized in the collection of information regarding these areas, including journal articles, texts, and websites. Though, texts and web information were both used in a limited capacity. The literature review specifically focuses on the effect the syndrome has on the speech and language of affected individuals.

Turner syndrome results in a monosomie of chromosome X and is the only viable monosomie known. One in every 5,000 newborns can inherit this disease. The mental abilities are not affected, although they are usually sterile owing to underdeveloped sex

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

Most people have never had the privilege to meet a child living with Smith-Lemli-Opitz Syndrome, SLOS for short. In fact, most people have never even heard of the disease. I have been able to spend time with a SLOS child and her wonderful family for the past 4 years. Audrey Bowers is a beautiful 5 year old girl who is severely impaired due to her genetic condition. SLOS is a rare metabolic disorder caused by a mutation in a gene found on chromosome 11. This specific gene corresponds to an enzyme that aids in the production of cholesterol within the body (Smith). Children with SLOS, like Audrey, are unable to produce enough cholesterol which leads to significant deficits in mental and physical development.

The purpose of this paper is to discuss the effects of the disorder and how genetics and biochemistry work together to create this

Mucopolysaccharidosis type 2 also known as Hunters Syndrome. This condition affects many different parts of the body and occurs in males. It occurs only in the males because this condition is inherited in an X linked recessive pattern. Males have one X chromosome and females have two. So it affects males. The exception is MPS 2 in which the mother alone passes along the defective gene to a son.

Miller-Dieker lissencephaly syndrome (MDS). MDS features include classic lissencephaly (incomplete or absent gyration of the cerebrum), craniofacial dysmorphims, mental retardation and intractable epilepsy. MDS is a life-shortening disease, with death most often occurring during early childhood (Dobyns, W.B., Curry, C.J.R., Hoyme, H.E., Turlington, L., and Ledbetter, D.H. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am. J. Hum. Genet 1991. 48, 584–594; Nagamani, S.C., Zhang, F., Shchelochkov, O.A., Bi, W., Ou, Z., Scaglia, F., Probst, F.J., Shinawi, M., Eng, C., Hunter, J.V., et al. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.

Stevens-Johnson Syndrome, a form of Toxic Epidermal Necrolysis, is a rare life-threatening disorder of the skin and mucous membranes which arises from an intense autoimmune sensitivity to mild infections, cancers, and most commonly, medications.

Cri-du-Chat (cat’s cry) Syndrome is a rare chromosomal disorder that is caused by the deletion of genetic material on chromosome 5. Due to this, this syndrome has an alternative name, known as 5p-, or 5p minus syndrome. Although this genetic defect is able to be diagnosed, the cause of the deletion on the chromosome is unknown. Almost all cases of the Cri-du-Chat Syndrome are found to have no relation with family members or previous generations. This syndrome is generally not inherited, as the deletion occurs randomly during meiosis (the formation of the gametes). In about 90% of people who have this condition, the deletion is completely random and is not inherited. The remaining 10% of affected people inherit a chromosome with a deleted section from an unaffected parent. This is because the parents’ balanced

It is expected from this project to develop interest among clinicians, educators, and parents/caregivers to learn more about the implications of SMS in children diagnosed with this disorder and to recognize the need for continuing unlocking their potential by pursuing the best therapeutic and educational management possible.

These generations are classified as clinical, genetic, and epigenetic2,4,5. Throughout the clinical generation, lynch syndrome was described on the basis of scientific features and family history2,4,5. In the genetic generation, the development of identification for the DNA mismatch repair genes starting with Msh22. In this generation, LS was said to be cause by autosomal dominant mutations1-9 within the mismatch repair genes of Mlh1, Msh2, Msh6, and Pms2. Around 3,000 genetic differences within these four genes have been identified2. The final generation referred to stable modification in the gene expression that changes in a primary DNA

A chromosomal disorder is caused by an abundance or reduction of genes on the chromosomes. This type of disorder may also be caused by structural changes within these chromosomes; this is known as an aneuploidy (Porth, 2015). The most common chromosomal disorder is Down syndrome of which there are three types: complete trisomy 21, translocation, and mosaicism (Porth, 2015). Since its first identification in 1866, researchers have become more knowledgeable about the etiology of Down syndrome. When one studies etiology, pathogenesis, and clinical manifestations of Down syndrome, he or she will begin to understand multiple chromosomal disorders.