Cri-Du-Chat Syndrome Research Paper

Cri-du-chat Syndrome is caused by a specific deletion in chromosome 5. It will result in severe mental retardation, abnormal facial features, a small head and an abnormally developed larynx which can causes the child's cry to sound like a cat. Some affected individuals rarely survive past early childhood.

In most cases of Cri du chat the syndrome isn’t inherited. The chromosomal disorder usually occurs because of a random event during the formation of reproductive cells (eggs or sperm) or during early development. People with cri du chat typically don’t

If someone had the disease then they would have to extend everything. The occurrence in the general public is around 2000-3000. The disease is really just neutral, as crying like a cat won’t

Rett Syndrome (RTT) is a rare neurodevelopmental disorder caused by a mutation of a gene found on the X chromosome; it have been thought that RTT was exclusively found in females, but a limited number of males with RTT have been reported (Renieri et al, 2003). Unlike females, who have two X chromosomes, males only have one X-chromosome. Because males lack a "backup" copy of the X chromosome that can compensate for a faulty one, RTT is often fatal to males (Katz et al, 2012). Prior research has shown that a mutation in the methyl CpG binding protein 2 (MeCP2) gene predominantly causes RTT (Forbes-Lorman et al, 2014). The MeCP2 gene holds the information for the production of the protein methyl cytosine binding protein 2 (MeCP2), which is

Cri du chat, is a French word meaning “cry of the cat”. Cri du chat is a disorder is caused by a mutation or missing chromosome known as chromosome 5. The disorder has multiple symptoms that is affected mainly on the head. A person with Cri du chat have some have some movement disabilities and speech problems. But there are still some treatments for the patients to reach their full potential.Although the disorder is not inherited Cri du chat is a random disorder and happens during the development of the egg or sperm. And in some cases very small of children have received it by the parents.

Genetic disorder has many diagnostic and common names for example, DMD is also known as Duchenne muscular dystrophy or Becker and pseudohypertrophic muscular dystrophy. DMD is a genetic disease that occurs mostly in boys. According to the “Muscular Dystrophy Association DMD is inherited in an X-linked pattern, because the gene that can carry a DMD-causing mutation is on the X chromosome. The male host inherits an X chromosome from his mother and a Y chromosome from his father, which is what makes him male. The female host inherits two X chromosomes, one from each parent.” (MDM). “The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region, involving the steroid sulfatase gene cause X-linked ichthyosis; rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies (DMD or BMD); and the Xq27.3 unstable region, containing the (CGG) in repeat expansion in the FMR1 gene is associated with fragile X syndrome stated in the article, “A Family with Fragile X Syndrome, Duchenne Muscular Dystrophy and Ichthyosis Transmitted By An Asymptomatic Carrier”(Todorova, A)

First, the most common, which affects 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 the different genetic mechanisms that cause Angelman syndrome. We have a side-by-side visual of the chromosome and what the defect(s) look like, and where it takes place on the maternal

Nobody is genuinely knows what causes these sensitivity, but throughout the world Couvade Syndrome has been documented at full length of history in uncounted cultures. Some experts admit that they may be a maneuver to get some attention. But some say it is an expressions of the angst, stress and terror correlate with coming fatherhood, feelings of hesitation of becoming a father or with the identifying of fetus. In the time, others still conceive that Couvade Syndrome is a manifestation of sin for having impregnated a partner, envying the mother's ability to give a child and her birth experience, or responsiveness with the mother's

The world of psychology remains an ever-growing force, affecting humankind constantly with the capability to shape or change a person's overall cognition and behavior.  Frequently, psychological disorders or conditions arise due to the normal anatomy or physiology of the brain being altered, manipulating or even magnifying the average person's state of mind.  Upon delving into the expansive realm of psychological conditions, I had discovered a rather unique condition that evidently leads its victims to believe they are no longer among the living: Cotard's Syndrome (AKA Walking Corpse Syndrome).  In short, it goes without saying that the grotesque delusions of this syndrome are undeniably captivating, which drew me in with

This lack of protein causes deficiencies in the relaying of nerve impulses which then leads to an individual displaying the physical and developmental symptoms specific to this syndrome. Most males and about half of females with a full gene mutation have characteristics such as a narrow face, large ears, a prominent jaw and forehead and unusually flexible fingers, and even flat feet and low muscle tone due to associated problems with connective tissues (National Library of Medicine, 2014). Males tend to have a mild to moderate intellectual disability, while only one-third of affected females are intellectually disabled (National Library of Medicine). Individuals also suffer from behavioral problems that include things such attention-deficit/hyperactivity disorders, obsessive-compulsive fidgeting or impulsive actions, unstable and disproportionate emotional displays, aggressive and self-injurious behavior related to difficult temperament, and features of autism spectrum disorders like hand-flapping and poor eye contact (Hersh & Saul,

Crouzon Syndrome is an autosomal dominant disorder of the first branchial arch, which acts as a precursor to the maxilla and mandible. The disease was originally known as craniofacial dysostosis, referring to the malformation of bone around the face. The malformation of bone is due to early fusing of an infant’s skull and facial bones, or the bones’ inability to expand correctly. Common symptoms that arise from the disease include low-set ears, bulging eyes, relatively large distance between the eyes, and a beak-like nose. The major genetic cause of Crouzon Syndrome is a mutation occurring in a gene known as the fibroblast growth factor receptor 2 (FGFR2) gene that resides on chromosome 10, which encodes for the FGFR2 protein. This protein is involved in many bodily processes such as wound healing and embryonic development. Due to the widespread importance of the FGFR2 gene, mutations can have morbid and fatal consequences.

I am choosing to learn more about Dravet Syndrome which is a type of epilepsy. I have chosen this disease because I met a girl at work who is about my younger brothers age who has this. Her parents came in asking if we would do a fundraiser for her and I got to spend time with them and learn more about this disease. We held a fundraiser at Rita’s and helped raise over $150 and taught people about her disease.

Cri du Chat syndrome-also known as cat cry syndrome- a genetic condition that is caused by a genetic material on the fifth chromosome. Discovered in 1963 by french geneticist named Jerome Lejeune. Cri du chat was described as a syndrome that consists of congenital anomalies and mental retardation, microcephaly, and abnormal face. In younger patients the cry similar to mewing of a cat is the main diagnostic feature of the syndrome. The syndrome got its name high-pitched tone of their cry.The syndrome is commonly mentioned as deletion 5p-syndrome/ chromosome 5 short arm deletion. Most cases are said to have evolved in the egg or sperm. The syndrome causes irregular development of a child's larynx it becomes most distinct when the child gets older around age 2 and makes the diagnosis WAY more stressful. Cri du chat syndrome is known as an uncommon disease by the OORD

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.

Also, the larger the deletion, the more genes are likely to be involved, and the more drastic the resulting defect is likely to be. A number of human disorders are caused by chromosomal deletions, and, generally, their phenotypes are more severe than those caused by duplications (Brewer et al., 1998). Among the better-characterized deletion disorders are cri du chat (French for "cry of the cat") syndrome, named for the distinctive cry affected infants make due in part to malformations of the larynx, and Prader-Willi syndrome (PWS). Both disorders are characterized by mental retardation, as well as a number of physical