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Klinefelter's disease
Klinefelter's disease
Man with klinefelter syndrome
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Recommended: Klinefelter's disease
Klinefelter syndrome is a chromosomal abnormality that leads to alterations in the male phenotype. These alterations appear in both the physical and cognitive development ("Klinefelter syndrome - Genetics Home Reference", n.d.). Males affected by this disorder carry an extra X chromosome, which results in androgen deficiency, hypogonadism, and infertility (Smyth, 1998). Instead of being inherited, Klinefelter syndrome is due to spontaneous events during the formation of the parental germ cells. These events lead to an extra X chromosome in the cells of the offspring ("Klinefelter syndrome - Genetics Home Reference", n.d.).
Klinefelter syndrome is the most common sex chromosome disorder. This disorder affects nearly 1 in 500 males, and is
I have chosen to do this research paper on a very rare disease that directly affected my family. My Husbands Uncle, at the young age of 54, was diagnosed with Wegener’s Disease and survived only six short months from the time of his diagnosis. He was severely ravaged by the disease by nearly every symptom that I will explain further in this research paper.
Duane Syndrome is an inherited unusual type of strabismus (squint) most often described by the incapability of the eye(s) to move inwards, outwards individually or together. This was first reported via ophthalmologists Jakob Stilling in 1887 and also Siegmund Türk in 1896. The syndrome was named after Alexander Duane, who explained the disorder more specifically in 1905. The syndrome is described as a miswiring of the eye muscles, causing eye muscles to tighten when they don’t need to and other eye muscles not to tighten when they need to. Very often patients get the syndrome by the age of 10 and it is more common in females (60% of the cases) than males (40% of the cases). Although the eye is usually the abnormality associated with Duane Syndrome, there are other bodily functions that can be affected. Duane syndrome cannot be cured, because the cranial nerve is missing and it cannot be replaced. The gene known as “SALL4” has been associated as a cause of this condition.
The Duchenne gene has been located on the short arm of the X chromosome. This means that Duchenne muscular dystrophy is inherited as an X-linked recessive disease. Females have two X chromosomes, while males have one X chromosome and one Y chromosome. Therefore, in females, a normal X...
Turner’s affects the second X chromosome in a chromosome pair. This X is either incomplete or missing completely, which causes a decrease in fetal development and also a decrease in the development after birth. Since Turner’s affects the second X chromosome, this means that Turner’s only affects females. However, females of a certain race, nationality or those who live in a certain region of the world have the same risk of having Turner’s. One in every 2000 to 2500 baby girls are born with Turner’s, according to the National Health Service in the United Kingdom. Normally if a baby is conceived with an X chromosome missing, the body will naturally abort the baby, which is a miscarriage. Turner’s is usually the cause of almost 10% of miscarriages in the first trimester.
Jacob Syndrome is a rare condition where males contain an additional copy of the Y chromosome in their cells. According to the Genetic and Rare Diseases Information Center, (GARD, 2012), other names for Jacob Syndrome include: 47, XYY syndrome, XYY Karyotype, and YY syndrome. Statistics from Genetics Home Reference (2014) state that Jacob Syndrome appears in approximately 1 in 1,000 male newborns. In the United States, 5 to 10 male newborns have Jacob Syndrome.
This absence of part or all of the second X chromosome means that one important gene known as the SHOX gene is missing.
The most common way of getting Angelman syndrome is through chromosome deletion. This is responsible for about 68% of all cases o...
. Other mistakes that can occur during meiosis include translocation, within which a part of one chromosome becomes connected to another, and deletion, in which part of one chromosome is lost entirely. The severity of the results of those disorders depends entirely on the dimensions of the chromosome fragment concerned and, therefore, the genetic data contained in it. Modern technology will find these genetic abnormalities early within the development of the foetus, however at the moment, very little will be done to correct or perhaps treat the diseases ensuing from
the disorder depends on the status of the mother and of the father. The figure below
Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 21 in each of the body's cells.
18. a) Explain the process of nondisjunction can result in an individual with Klinefelter syndrome. Create a diagram showing the disjunction occurring in the mother to help explain your answer. Individuals with Klinefelter syndrome have XXY chromosomes, and can occur when during the prophase of meiosis I, in females there is nondisjunction of X chromosomes. This results in a male with trisomy. One egg can have no X chromosomes and the other could receive both X chromosomes.
Sex-linked disorders only affect males and are passed down through female carriers. A boy inherits the disorder when he receives an X chromosome with a mutated dystrophin gene (the genetic cause) from his mother. The dystrophin gene is the largest gene found in nature and was identified through a positional cloning approach. It's a highly complex gene, a large rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. (www.ncbi.nlm.nih.gov)
He published a comprehensive medical description of the syndrome. It was not until 1959, that it became clear the syndrome was due to lack of sex chromosome material. Turner's Syndrome is a rare chromosomal disorder that affects one in approximately 2,500 females. Females normally have two X-chromosomes. However, in those with Turner's Syndrome, one X chromosome is absent or is damaged.
Chromosome changes occur if either the male or female sex cell individually divides the wrong way, or the zygote itself divides abnormally after the sperm and egg have joined.