Genetic Disorders : A Genetic Disorder

Cystic Fibrosis (CF) is the most common and fatal genetic disease currently in the United States, affecting roughly 30,000 Americans each year (National Human Genome Research Institute, 2013). CF is an autosomal inherited disease that adversely affects the mucus and it’s production throughout the entire body. Mucus is normally a slippery substance that lubricates and protects vital organs and body systems including the lining of airways, reproductive system and digestive systems. Patients who are diagnosed with CF actually have mucus that is abnormally sticky and thick, which places them at a high risk for severe pulmonary, digestive, and reproductive problems. Specifically regarding the pulmonary system CF patients often develop clogged airways, leading to bacterial infections and breathing abnormalities such as chronic coughing, wheezing, inflammation and lung damage. As a result of this recurrent and problematic, this places the patient at an increased risk for permanent lung damage and disease. Over time due to recurrent, chronic lung infections the characteristic of the lungs begin to change as more and more scar tissue develop making them fibrotic and develop cysts.

Developments in medicine have negatively impacted natural selection by causing an increase in genetic disorders. A genetic disorder can occur for many reasons. Sometimes chromosomes are missing or doubled. In other situations, the genetic code on chromosomes can get altered due to an anomaly when the RNA processes the information. Important information can be deleted, swapped, or completely altered. It is because of these changes in chromosomal DNA that changes in species come about. Genetic disorders are the negative effects of mutations in genes. For example, Sickle-cell anemia is a blood disorder which

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

Genetic disorders come in various forms. Some can be caused by mutations of the genes or chromosomes while others can be caused by a process called nondisjunction. Nondisjunction occurs when chromosomes during meiosis do not separate correctly and the daughter cells receive too much or too little genetic information. Klinefelter's is caused by nondisjunction which results in an extra X chromosome being present in a male.

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.

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

Cri Du Chat also known as chromosome 5p deletion is a syndrome that can have mental ,microcephaly, and a mewing cry as an effect . Cri du Chat means cry of the cat in French because of the cat like cry sound people that are affected do. This syndrome was discovered by Jerome Lejeune in 1964. Lejeune was a french geneticist. He also found the reasons behind Trisomy 21,or down syndrome. He also is the founder of the first specialized clinic for Down syndrome patients. He did this at Necker Children’s Hospital in Paris. He was the first Professor of Fundamental Genetics at the Faculty of Medicine in Paris. He also discovered the genetic cause of Cri-du-Chat syndrome and to also found better understanding of Fragile X syndrome and other syndromes.He

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

A genetic disorder is a genetic condition, originally caused by a DNA abnormality. Genetic disorders can be inherited or can form early, in the development of child’s womb. Marfan syndrome is a genetic disorder that affects the body’s connective tissues in many parts of the human body. These specific connective tissues are made with the help of fibrillin, to produce elastic fibers, which are essential for connective tissues. The connective tissues are the tissues that provide strength and flexibility to many structures such as the bones, blood vessels, ligaments, muscles, and heart vessels. Connective tissues also allow the body to grow and develop properly. Marfan syndrome occurs when there is a mutation in the gene, specifically what tells

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

Genetic disorders or heredity diseases are disorders that are caused by a missing gene, abnormal gene, or chromosomal characteristic (The Free Dictionary, 2007). There are to me found many genetic disorders. Klinefelter syndrome is an example of a genetic disorder. Klinefelter syndrome affects the male rather than female (“47, XXY”, 2016).

In conclusion, genetic disorders are diseases that are caused genetic mutations. The increase of genetic disorders in the Middle East contributes to the fact that the rates of inbreeding are often high, high maternal age, and the increase of the marriage of carriers. Genetic disorders do not only affect the patient physically, but it can also affect psychologically. Schools and the media should be used to improve understanding of genetic diseases among health professionals and the public to raise awareness and educate people about genetic disorders. In addition, pre-marital screening must be obligatory to direct the Middle East towards a healthy society that is free of genetic disorders.

Genetic disorders occur when there is a problem with the DNA of an individual. These disorders can befall either on the first 22 chromosomes or the 23rd chromosome. Neurofibromatosis is one of these disorders, and it falls upon the first 22 chromosomes.

There are three categories that can classify genetic diseases. They are single gene disorders, chromosome disorders, and multifactorial disorder or complex disease. Each of these categories are different with and affect people in certain ways. Single gene disorders, also called Mendelian disorders, are caused by a modification that occurs in one specific gene. An autosomal dominant defect occurs when there is an altered gene and a healthy gene that are inherited. An example of this type of defect would be Huntington’s disease, an individual only needs one copy of this defective gene on chromosome four to have the disorder. Autosomal recessive defect, is another type of single gene disorders that occurs when there is two altered variations of

The genetic disorder named “cri du chat” is a partial depletion of chromosome 5p. Also known as “ Lejeune's syndrome” as first described by Jerome Lejeune in 1969.