Cri Du Chat Research Paper

This is saying they are going to have some type of complications with missing chromosomes. “Most cases of Cri-Du-Chat is not inherited.” (Cri-Du-Chat syndrome clinical presentation,1) . Most don’t inherit this syndrome. It also affects infants because it 's really an intellectual disability.

The red-shanked douc langur (pronounced duke LANG-grrr) is an endangered monkey that comes from the forests of Vietnam, Laos and Cambo- dia. The mother douc langur is named Moki. Like the other douc langurs, she has dark, almond shaped eyes. Her white face has shades of tan on the nose, cheeks, brow and ears.

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

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

In the year 1943, two scientist, Martin and Bell, took on a case of mental retardation in a family. Through their investigation of the family, they were able to find a mark, or difference in a spot of the X-chromosome. There was extended information on the arm of the X chromosome causing the difference in looks for the family. More research was done when people began to map the gene in the 60’s and 70’s, and there was specific characteristics identified with the syndrome. With the discovery of the characteristics scientist could compare the affected males in the family compared to the unaffected women and find physical and genetic differences.

On December 17, 1706 in Paris, France, a great scientist was born, Gabrielle Émilie le Tonnelier de Breteuil (later Émilie du Châtelet). She was born into French nobility and educated at home. The young Émilie learned to speak six languages by the time she was twelve, and had lessons in fencing and other sports. Even from a young age she was fascinated most by science and math, much to her mother’s displeasure (This Month in Physics History), but her father supported her. By her teen years she became a beautiful and independent young lady and when she reached the age 18, she faced reality and knew that she had to get married. Émilie accepted the proposal of Marquis Florent-Claude du Châtelet, a

A simple change in your chromosomes can cause this rare genetic disorder to appear. TCS affects 1 in 50,000 newborns worldwide since this condition can be passed through genetics but sometimes it is just caused by a

Kids with this syndrome have side-to-side curvature of the spine. This disorder causes development disabilities and nerve-related symptoms. This syndrome is most often caused by problems with a gene located on chromosome 15 called the ubiquitin protein ligase E3A (UBE3A) gene. Typically, kids are happy, excitable demeanor, with frequent smiling, laughter, and hand flapping movements, difficulty sleeping, and problems with movement and balance. Kids with this disease have distinctive facial features.

Jane has Pierre Robin Sequence (PRS) and a Chromosome 16q 24.1-q 24.3 micro deletion. The deletion of the 16q chromosome increases the risk of poor social skills, developmental delays and learning disabilities (Gillmore & Campbell, 2006, p. 229). PRS is sequence of disorders that present with recessed mandible, restricted airways, displacement of tongue and cleft palate (Gangopadhyay, Mendonca, & Woo, 2012). According to Gilbert (1996, p.234) usually this sequence causes only slight learning disabilities but produces other abnormalities that have “far-reaching effects “which can lead to learning disabilities. As with Jane, PRS can cause a gap between social understanding and an ability to express feelings appropriately or clearly, causing frustration and anxiety (Calen &

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-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

Cri Du Chat syndrome is not sex-linked. It is caused by the deletion of the 5th chromosome so it can happen to boys and girls. There is also no particular chromosome it is located on. It’s not on a chromosome it’s a genetic disorder that is caused by a missing chromosome. It is also neither dominant or recessive, the reason being that it is not inherited because it is a random

There are over 5,000 genetic disorders passed down through the generations. These disorders are caused by abnormalities within the chromosomes of an individual. Rubinstein-Taybi syndrome, or RSTS, is a rare genetic disorder that occurs in 1 child out of anywhere between 100,000 to 125,000 children. It was identified by Dr. Hooshang Taybi, a pediatric radiologist, and Dr. Jack Rubinstein, a pediatrics professor, in 1963.

This condition is caused by a genetic mutation. The condition develops in people who inherit the mutation from each of their parents.

Numerical abnormalities, or aneuploidy, is when an individual is missing a chromosome or has an extra chromosome. Monosomy is when there is only one chromosome present from a pair due to nondisjunction at the second division of meiosis. The only known viable case of monosomy, is Turner’s syndrome, where an individual only have one sex chromosome . Trisomy are cases where there are three of a particular chromosome when there should only be two present. Cases of an additional chromosome are seen in both autosomal and sex chromosomes. Majority of cases are not viable, however there are common types that do survive. The most notable cases are trisomy 21 and Klinefelter syndrome. Trisomy 21 is a genetic disorder of chromosome 21 having three copies, causing intellectual and physical growth delays. The four types of structural abnormalities are chromosomal deletions, duplications, translocations, inversions, and rings. When chromosome mutations are created, either through a mistake in cell division or by a mutagen, protein synthesis is affected. The structural changes can produce a varying degree of developmental difficulties in an individual, depending on which genes experiences the structural change. Chromosome changes are often damaging to an individual causing developmental difficulties and in some cases death can be an outcome. A deleted section of a chromosome can result in developmental delay, heart problems, behavioral problems, delayed muscle development, and