5p Syndrome Research Paper

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.

Females are carriers in their X-Chromosome and they have the chance of passing the disease on to their children, 50-50 to a girl and 50-50 to a boy. If the girl does receive the gene she becomes a carrier. If the boy gets the gene then he has the disease. Males do not pass on the gene to their children because they pass on the Y-chromosome and the disease is X specific. Some female carriers have indicators of being a carrier by having symptoms of cardiomyopathy, shortness of breath during exercise, and muscle weakness in the back, arms, and legs. There have been very rare instances where a girl has not received a

The patient whose chromosomes are organized on the Karyotype Worksheet #1, is a normal female as indicated by her XX sex chromosomes, with a total number of 46 chromosomes and her karyotype doesn’t exhibit any aneuploidy or structural errors.

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.

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

Today in the US the Cri du chat syndrome effects 1 in every 20,000 to 50,000 newborns. This disease is also known as Chromosome 5P, 5P, 5P syndrome, and cat cry syndrome. This disease does not just effect the ability to think, it also effects the physical actions too.

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

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

Cri Du Chat Syndrome arises from anomalies in chromosome five . Cri Du Chat Syndrome is found in boys and girls (Pituch et al., 2010). People from all ethnic backgrounds can have Cri Du Chat Syndrome. Most cases are believed to occur during the development of the egg or sperm. A deletion in the p arm of chromosome five results in Cri Du Chat Syndrome (Tyagi, Kumar, Kumar, Singla, and Singh, 2010). The deletion ranges from a partial deletion to a total deletion on the short arm of chromosome five. The deletion could range from region 5p15.3 to a complete loss of the arm (Rodríguez-Caballero et al., 2010). This abnormality is triggered by a small deletion of a single band of DNA. The genetic information on chromosome 5 is missing. Telomerase

Cri-du-Chat syndrome, or 5p- syndrome is a chromosomal condition where chromosome 5 is missing and occurs in newborn children. The name is a French translation for “cry of the cat” because it sounds just like a cat’s screech. The disease is caused by an abnormal larynx development and usually becomes less noticeable as the child gets older. Since the disease becomes less noticeable through aging, after the age of two, it is very hard for doctors to diagnose a child with it. TERT( Telomerase Reverse Transcriptase), is one of the important genes in cell division that gets deleted because it helps keep the tips of chromosomes in

Trisomy 9 Mosaicism syndrome is an uncommon chromosomal condition in which the entire 9th chromosome appears three times, rather than twice in some cells of a person. This disease symptoms may vary greatly in severity, depending on the percentage of cells with the extra chromosome. Some of its common features involve pre-natal growth deficiency, mental retardation, structural malformations of the heart at birth, and physical abnormalities of the skull and facial region. Trisomy 9 Mosaicism can be caused by errors during the division of the parent's reproductive cells or during the division of body tissue cells early in the development of the embryo. Chromosomes are even subdivided into bands that are numbered outward from the centromere. For

Many children who have this mutation may not even get diagnosed for several years because of how rare it is and how little amounts of information are known about it. When the child or person of any age is found to have this mutation the only thing that can really be done is symptomatic and supportive care by closely monitoring the person’s organs and body functions. Luckily trials are being run in several settings including learning from people who already have the disease and symptoms to find at the very least some time of prevention or life extending solution to this

The genetic disorder that I am talking about is cat eye syndrome (CES). Cat eye syndrome is a recessive trait and, it is also a sex linked gene. One of the characteristics of CES is when your pupils look alot like cats pupils. CES isn't all that great it can cause eye, ears, heart, and kidney defects. Cat eye syndrome (CES, also known as Schmid–Fraccaro syndrome, is a condition caused by a chromosomal abnormality and is named after the cat-like eye shape it causes.

G6PD Deficiency is inherited from one or both parents to a child. The gene that connects to this deficiency is on the X chromosome, which is one of the two sex chromosomes. Males are more affected from G6PD Deficiency compare to female. That’s because men have only an X chromosome while women have two X chromosome. In males, modification of one gene is enough to cause G6PD deficiency. However,

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.