Various Genetic Disorders Essay

2839 words - 11 pages

Various Genetic Disorders Alterations in human chromosomes or the deletion of an important
gene product are often due to a mutation, which can spring an abundant strand of genetic
mutations and improper coding. Mutations can spring from deletion, duplication or inversion of a
chromosome. This improper deletion is the factor that leads to complications and ultimately
genetic disorders. Turner Syndrome and Cat-cry Syndrome are both alterations of chromosome
structure due to deletion. In Turner Syndrome, there is a missing X chromosome and in the
Cat-cry Syndrome chromosome-18 has been lost or deleted. Other genetic disorders that give
rise to discussion are point mutations which include Sickle cell anemia, Maternal PKU and the
genetic disorder of The D1 Trisomy syndrome. Turner Syndrome was described first by Turner in
1938 (Jack H. Hung 1989 p.45) and it was established that this disorder was due to the deletion of
an X chromosome in 1959 by Ford, Jones, Polani, de Ameida and Briggs. The most predominant
traits of those who have this disorder consist of being short, having neck webbing with a low
hairline and having a widely spaced chest. Turner Syndrome disease is not a fatal disease as long
as there is management of possible heart problems and ovarian dysfunction. Early support and
counseling are the key in dealing with psychological problems that may arise such as infertility
and potential hearing loss. Cat-cry Syndrome is another deletion disorder in which inhibitor
survives quite well. Lejeune recognized this disorder in 1964 and he gave it the official name of La
Maladie du Cri-du-Chat. The physical characteristics are evident in this disorder. There is a
round moon-face, a low birth weight and a transverse palmar crease. When infants are born, it is
their cry that stands out the most. It embodies a plaintive high-pitched wail, weak, and with a
hint of stridor that sounds like that of a cat (Valtine 1969 p.113). This cry is the result of small
vocal cords and a curved epiglottis. As these infants grow older their voice will eventually deepen
and become more normal. The chromosome deletion is part of the short arm of a B group
chromosome. It seems that the deletion comes about as a chance mishap, a break and then a loss
at anaphase (Valtine 1969 p.114). Sickle cell disease is another disorder but is not caused by the
deletion of a chromosome. Instead there is an abnormal type of hemoglobin S that is inherited as
an autosomal inherited trait. This disease produces chronic anemia, which may become life
threatening when hemolytic crises (the breakdown of redblood cells) or aplastic crises (bone
marrow fails to produce blood cells) occur ( The
incidence of...

Find Another Essay On Various Genetic Disorders

Genetic Screening Essay

3282 words - 13 pages being isolated and characterized at molecular level. More complex human hereditary disorders, those which are caused by the interaction of several genes, also interacting with the environment, such as heart diseases, hypertension, diabetes, various forms of cancer and infections, are also being investigated using a molecular approach (13). HGP and HGDP a great international effort Many countries are developing a collaborative effort to

Engineered Life vs. God Given Life

1317 words - 5 pages each person contains various differences in his/her genes that allow the human race to survive through Darwin’s “survival of the fittest” model of evolution. If genetic engineering were to become prominent in our society, it’s believed that it is ethical and moral to limit genetic engineering in order to save the genetic variation in our current gene pool. With genetic engineering, humans will become a “monoculture.” According to Powell, the gene

Genetics And Progeria: The Disease Of Premature Aging

1605 words - 7 pages Progeria a genetic disease that causes premature aging, it will be apparent how much further we have to go.In today's world we take it for granted that every one knows what genetics are and how we study it. The study of genes and DNA help us traverse the world of medical mystery. In the study of genes and the function is the study of disorders or rather anomalies within the gene make-ups of various individuals that caused malfunctions, or disorders

Genetic Testing and Screening

2093 words - 8 pages disorder; or (3) they are concerned about passing on a genetic problem to their children ( Many of the genetic tests used today involve either medical or surgical procedures. Some types of genetic testing include the Carrier Identification genetic test. This test is used by couples whose families tend to have a history of certain recessive genetic disorders, and who are planning to have children

The Plague of Major Depression

1016 words - 5 pages interpersonal skill • Poor social skills • Socio-economics status The contribution of genetic factor to various psychological disorders causes much debate between the two fields of study. Psychologist previously often overlooked genetic contributions to the development of any psychological disorder. In recent time it is cannot be argued that genetics do not play an integral role in psychiatry. Family, adoptions and twin studies often confirm the

Schizophrenia, Psychosis, and Life Span Development

942 words - 4 pages biological factors in learning disorders: genetic influences and brain abnormalities. Family, sibling, and twin studies indicate that learning disorders often have a genetic component. Learning disorders are most often addressed with remedial education that involves behavioral and cognitive components. The most common interventions for learning disorders involve remedial education using behavioral and cognitive principles. Academic skills are broken

Molecular characterization of Dendrobium nobile Lindl., an endangered medicinal orchid germplasm based on randomly amplified polymorphic DNA

1611 words - 7 pages species is a necessary prerequisite for conservation as it reflects the status and survival potential of populations (Lande 1988). Genetic data may provide us an important source of variation that can be used to modify plant species by various methods. Various taxonomi traits like leaf character, branching patterns etc can be applied in the evaluation of genetic variations but these charecters as labels for the detection of genetic diversity of the

The Human Genome Project

1153 words - 5 pages disorders that affect the population. Scientists hope to someday find ways to prevent the thousands of disorders that affect the human population through the genomic research. (Human Genome Management Information System, 2011). Genomic researchers have found out that each individual's genetic code differs slightly. Reportedly, any two human individuals are approximately 99.9% the same genetically; it is hypothesized that the most important

Psychiatric Disorders, Diseases, and Drugs

1027 words - 4 pages traumatic stress disorders experience extreme anxiety or fear in relation to the traumatizing experience.TheoriesIt is thought that anxiety disorders are based on genetic inclination, and environmental effects. Other theories have integrated brain chemistry, because signs of anxiety are reduced through medication. This directs researchers to consider that chemistry plays a role in the onset of anxiety (Mental Health: Anxiety Disorders and Causes, 2008

What´s Genetic Engineering?

1626 words - 7 pages had genetic disorders like Severe Combined Immune Deficiency, hemophilia, Chronic Granulomatous Disorder now have a fair chance of surviving and living normal lives with little to no difficulty. Acquired diseases such as the various forms of cancer and numerous neurodegenerative diseases such as Parkinson’s and Huntington’s are currently in Phase I trials. (American Society of Gene & Cell Therapy). Genetic modification of seeds by companies similar

Genetic Choices- Prenatal Genetic Testing

1726 words - 7 pages she wants to abort the child or not. There are many benefits to prenatal genetic testing, but at a certain point it becomes morally wrong to eliminate unborn babies because of their defects. "Prenatal genetic testing is checking for genetic disorders by looking for changes in a person's DNA" (Childress 519). Doctors take a small blood or tissue sample from a patient and they can test for genetic mutations that could possibly show up in their child

Similar Essays

The Kingdom Of Saudi Arabia Essay

2235 words - 9 pages the community [3]. The genetically defected people are a heterogeneous group which results in defects of the genetic material. Congenital malformations and a few genetic defects may be a result of exposure to prolonged radiation or various drugs; commonly infectious diseases during pregnancy of the mother such as viruses or toxoplasma, and rubella are another cause of genetic disorders [4]. Genetic disorders may also be a result of chronic

Noninvasive Prenatal Genetic Testing Using Maternal Serum

2534 words - 10 pages (Norwitz and Levy). There are many options for prenatal genetic screening and diagnostic tests, and the information that can be found is just as various. Between one and three thousand genetic disorders can be detected by genetic screening and diagnostic tests (Shane). Some of these disorders may not show symptoms until youth or adulthood, but those who test positive for specific genetic malformations may be able to prevent symptoms before they

Genetic Screening What Are Its Uses, Advantages, Disadvantages And Ethical Issues

927 words - 4 pages discovered chromosomes and later in 1902, people realised the link between chromosomes and inherited diseases or genetic disorders. In today's society, genetic testing of any kind is more popular and due to the advancement in technology and knowledge, genetic can now be used to detect disorders and have been an advantage to a lot of individuals.Ethical IssuesThe way genetics works, is of course finding information on the genotype and phenotype of a

Substance Abuse Essay

1272 words - 5 pages eating disorders focuses on the unrealistic images of female beauty presented by the media and their negative effects on women. Eating disorders usually arise from multiple causes.Most treatments, especially in cases where the eating-disordered behavior is severe, involve the combination of techniques from a variety of theoretical perspectives. Biological explanations of anorexia and bulimia focus on the role of genetic, hormonal, and