Down Syndrome : Genetic Disorder And The Most Common Autosomal Chromosome Abnormality Essay

every year are born with some kind of genetic disorder. A genetic disorder is described as an illness caused by an error in one’s genome, and is usually hereditary. To understand how these errors occur, one must first understand the basic concept of genes. Genes are the basic units of heredity and are made up of pieces of DNA that instruct the cell how to make specific proteins. Humans are estimated to have about 20,000 to 30,000 genes in their genome. Chromosomes contain these genes and DNA. Humans

results in an abnormal amount of chromosomes in the produced cells and causes alterations in those who are affected. Nondisjunctional consequences can be seen in these five examples of genetic inheritance conditions discussed in this paper: Down syndrome, Patau’s syndrome, Edward’s syndrome, Klinefelter syndrome, and Turner’s syndrome. The Mendelian principles of genetics developed by Gregor Mendel include the patterns of autosomal recessive and autosomal dominant. Autosomal dominant and recessive inheritance

other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems)…” Over 400 genetic

Turner syndrome, also known as Monosomy X, is caused by the deletion of the second X chromosome in females. This can be a partial deletion or a complete deletion. It is caused by a random error called nondisjunction, which is “the failure of sister chromatids to separate during or after meiosis” (Biology Online, 2008). This can lead to an abnormal amount of chromosomes. In this case, it leads to an abnormality in the sex chromosomes leaving the woman with one functioning X chromosome. While the specific

the genetic disorder or autoimmune disease? How was it discovered? Answer: In 1866, Doctor John Langdon Down. He first described Down syndrome as a disorder, but he misunderstood how Down syndrome arises. The cause of Down syndrome was rather recently discovered in 1959. Down syndrome is a genetic disorder and most common cause of cognitive impairments. B. Is the disease state recessive or dominant? Explain your answer. Answer: The disease isn’t a disease, it is considered a disorder. This

The Influence of Maternal Age on Down syndrome Children born to older parents are at greater risk for genetic abnormalities, such as Down syndrome. No one knows what causes the chromosomal abnormality that results in Down syndrome, a condition according to the National Association for Down syndrome, affects one in 800 to 1,000 babies in the United States. Any woman regardless of her culture, race and socio-economic status can have a baby with Down syndrome. However, a mother’ age seems to be a

their child has a genetic disorder called Down Syndrome (“National Down Syndrome Society,” n.d.). Within a matter of minutes parents learn that children with Down Syndrome can also have a variety of other conditions and disorders, will not develop in the same way that other children do, and may even have a shorter life span. However, children with Down Syndrome are happy-go-lucky children with a kind disposition and a wonderful personality. Also known as Trisomy 21, Down Syndrome does not

STICKLER SYNDROME: Case study in a Caucasian family ABSTRACT: Stickler syndrome is a genetic disease with autosomal dominance having hereditary Arthro-ophthalmopathy related to incorrect collagen structure. This syndrome is characterized by ocular, orofacial, auditory, and musculoskeletal abnormalities. This connective tissue disorder distributed throughout the body and multiple organ system. This paper discusses the case of a Caucasian family with stickler syndrome and emphasizing the benefits

Patau Syndrome, otherwise known as T13 is a very rare and lethal genetic disorder in which a person has three copies of chromosome 13 instead of two. T13 is characterized by the presence of an assortment of heart and brain malformation in newborns. Children with the disease are often born with multiple birth defects that are normally associated with T13 but not limited to it, including small eyes, undescended testicles, cleft lip/palate, and they consistently exhibit signs of mental deficiency and/or

Adam Murphy Dr. Thornton Genetics 10 October 2014 Reproductive Genetics In a post-genome age, reproductive genetics is becoming an increasingly pressing topic in the debate between advancements in genetic research and ethical policy. Today, parents are given an unprecedented amount of control over the future health of their children. Many different methods of genetic screening and prenatal testings are becoming more and more available to the public; however, due to the nuance