Cri-Du-Chat Syndrome Research Paper

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 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.

There are many symptoms for Cri du chat but not all people diagnosed with this disorder get them. The symptoms that most people diagnosed with the disorder are: A high pitched cat-like cry (the cat-like cry becomes less and less apparent over time), mental handicap, language difficulty, slow development, a small head, wide spaced eyes, low birth weight, and weak muscle tone. Some Rarer symptoms are: feeding difficulty, slower walking, hyperactivity, scoliosis, and mild to severe retardation.

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

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

Cri du chat syndrome is a rare genetic condition that is caused by the deletion (missing piece) of a genetic material on the small arm of chromosome 5. The cause of this disease is unknown. Some of the symptoms of this disease usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial features, small head size, widely-spaced eyes, low birth weight, weak muscle tone, and webbing.

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

Cri-du-chat is also known as 5p minus syndrome, because it is a chromosomal disorder that results when a significant portion of chromosome 5 is absent. Cri-du-chat is French for “cry of the cat”, which refers to the high-pitched, cat-like cries made by children affected with this disorder. Cri-du-chat syndrome is usually as a result of the deletion of The CTNND2 gene which is situated in a section of chromosome 5. As a result of this deletion, people with this disorder are missing one copy of the CTNND2 gene in each cell. Hence, the loss of this gene may cause serious intellectual disability and mental retardation. In addition, many of the symptoms of this disorder are physical; that is, a person affiliated with Cri-du-chat usually exhibits

Prader - Willi Syndrome is caused by the deletion or not getting Chromosome 15 from the dad. This disorder

People with this disorder have growth issues. They also have round faces with full cheeks, hypertelorism, epicanthal folds, and apparently low-set ears .Most cases of cri-du-chat syndrome are not inherited. The deletion occurs most often as a random event during the forming of the reproductive cells or in the early fetal development. Affected people typically have no history of the disorder in their family. 1 of every 50,000 babies are diagnosed at birth with Cri du Chat. All races are equally likely to develop this syndrome. It is more likely in females by a 4:3 ratio. In recent studies it was discovered that the application of genetic molecular methods introduced advances in the diagnosis and typification of the cri-du-chat syndrome. There is no cure nor treatment for this because it's a chromosome deletion problem. Children with this syndrome have poor fine and gross motor skills. To help with this issue you can take physical ,occupational,and speech therapy. This will help with walking, writing,speech,and more. Women are fertile and can deliver affected offspring, with an estimated recurrence risk of 50%. Recurrence for a de novo case is 1% or

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

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

Klinefelter syndrome is a genetic disorder caused by an extra X chromosome that leads to disabilities in men and has a complex cause. This syndrome is caused when a male has an additional X chromosome with the regular X and Y chromosomes. Klinefelter syndrome occurs by a process called nondisjunction. This condition occurs by a process called nondisjunction. When chromosomes are wrongly allocated into the sperm of egg, it is known as nondisjunction. Nondisjunction is when, during egg or sperm formation(meiosis), a pair of sex chromosomes does not separate. When that sperm or egg with the extra X chromosome is joined with a normal egg or sperm, the zygote made by the two will have 3 sex chromosomes instead of the usual two. This zygote is then said to have a trisomy, which is simply a zygote with 3 copies of a chromosome, as such in Klinefelter's syndrome. On the other hand, a monosomy is a zygote which is missing a chromosome. Usually, when trisomy and monosomy happens in a non-sex chromosome, (autosomal), it is lethal,

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.

Much debate occurred considering if the presented cases were incidents of Robert’s syndrome, a different autosomal recessive disorder, or a new X-linked syndrome. All four cases between 1985 and 1993 considered, but then dismissed diagnosis of Robert’s syndrome for varying reasons. Characterised by phocomelia, as opposed to complete limb agenesis, Robert’s had a specified list of accompanying deformities. Each of the four studies showed evidence of extra anomalies being present. For example, the absence of the ears, nose and nipples, communication of bladder and rectum with atresia of anus was present in the studies by Zimmer et al and Gershoni Baruch et al, noting that the study by Gershoni-Baruch et al was a continuation of Zimmer et al (1985), reporting on the same same family but with new cases. Rosenak and Zlotogora had similar findings, both concluding that a lack of midline anomalies on top of complete pulmonary agenesis was atypical of Roberts. Chromosome studies by Zimmer et al, Gershoni Baruch et al and Rosenak et al