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Klinefelter syndrome paper
Klinefelter syndrome paper
Klinefelter syndrome paper
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Klinefelter Syndrome
Klinefelter syndrome is a common genetic condition affecting men that causes various complications to the male body and brain. Caused by a variation during meiosis, this then grows to a large complication through a patient’s life. The symptoms of this disorder are varied and hard to diagnose, leading to many cases left undiagnosed. Caused by a variation during meiosis, when cells are divided to foster genetic diversity, it is an extremely common conditions in men. Klinefelter syndrome is a genetic disorder caused by an additional x chromosome in men, affecting their sexual development and leading to learning disabilities.
Klinefelter syndrome is a genetic disorder caused by an extra X chromosome that leads to disabilities
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in men and has a complex cause. This syndrome is caused when a male has an additional X chromosome with the regular X and Y chromosomes. Klinefelter syndrome occurs by a process called nondisjunction. This condition occurs by a process called nondisjunction. When chromosomes are wrongly allocated into the sperm of egg, it is known as nondisjunction. Nondisjunction is when, during egg or sperm formation(meiosis), a pair of sex chromosomes does not separate. When that sperm or egg with the extra X chromosome is joined with a normal egg or sperm, the zygote made by the two will have 3 sex chromosomes instead of the usual two. This zygote is then said to have a trisomy, which is simply a zygote with 3 copies of a chromosome, as such in Klinefelter's syndrome. After this step, according to the Genetic Science Learning Center, “As the baby develops, the extra chromosome is then copied in every cell”(passage 1). Additionally, nondisjunction that leads to Klinefelter syndrome has an equal chance of happening in either the father’s sperm or the mother’s egg. In some cases, the cells happen to divide prematurely, and consequently, the chromosomes do not separate and only a portion of the child’s cells has the extra X chromosome. However, this occurrence is extremely rare, materializing in around 10% of cases, and these mosaic cases are often nominal and mild, frequently going undetected. A mosaic case is a case of Klinefelter's that is a combination of XY and XXY cells. In all, Klinefelter syndrome has a distinct cause that could then lead to other conditions in a man’s life. Klinefelter Syndrome, or XXY, is a serious condition that causes many disabilities and has a variety of symptoms that affects the body.
XXY is very rarely correctly diagnosed, and there are a multitude of symptoms and complications that it can cause. One of the main symptoms associated with Klinefelter's is infertility, because Klinefelter affects a male’s ability to produce sperm, and makes it so that the patient cannot have biological children. Alongside with affecting a male’s sexual development, Klinefelter negatively impacts a person’s learning ability by impairing many key functions. Stefan, a male diagnosed with Klinefelter syndrome, described his disabilities to include, “Reading comprehension, abstract thinking, understanding of non-visual materials, word retrieval, some slight memory retrieval, auditory processing and the taking of standardized tests”(passage 2). Some other symptoms can also include, but are not limited to, physical changes such as wider hips, higher levels of belly fat, narrower shoulders, and even proportionally longer legs and arms. These specific individuals are also at a higher risk of developing certain medical disorders, comprising of type 2 diabetes, heart valve defects, or even varicose veins. Also, they could develop osteoporosis, which is having weak bones. Consequently, because they individuals have 2 X chromosomes, they are subjected to the same amount of risk of autoimmune disorders and breast cancer as other females. However, many people with Klinefelter syndrome are very good with technology and computer skills, sometimes aiding them in their schools or in the workplace, one its few positive effects. In all, Klinefelter's syndrome can cause many complications and creates a multitude of serious symptoms to the male
body. Klinefelter syndrome is a genetic condition created by men having another X chromosome added to the normal one, that that later leads to complications in learning and development later in life. It is important to have a understanding about different genetic disorders so that our community as a whole can begin to have more respect and courtesy to those who have these syndromes. If we all could relate and cultivate a mutual appreciation for everyone, no matter their differences, the world would be a better place. Also, it is vital for scientists to have a strong understanding of these disorders so that they can better contribute to ridding the world of this terrible malady. In conclusion, we should all have a basic understanding of these diseases so that we can greater tolerate others differences.
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)
Genetic disorders can be caused by many of the 46 chromosomes in human cells. This specific disorder is linked to a mutation in the long arm of the X, or 23rd chromosome. The mutation is recessive, meaning a normal X chromosome can hide it. Females have two X chromosomes allowing them to hide the mutated recessive one, making them a carrier of the gene, while males only have one X chromosome, meaning that they are unable to hide the mutation and they become effected by the disease. Therefore if a male carries the gene, he is affected because he has no way of dominating the recessive gene, but if a female carries it, she is only a carrier and has a 50/50 chance of passing it on to her baby. This may seem like a high probability however, only one in every fifty thousand male births will have this immunodeficiency disease.
(Calendar 2013) Waardenburg Syndrome is a rare genetic disorder meaning that is caused by a mutation of genes. The disorder is classified as type I, II, III, or IV based on inheritance pattern and symptoms (Genetics 2013). Waardenburg Syndrome is an incurable disorder that is inherited from either one or both parents. If it came from one parent, it is an autosomal dominant pattern and if it came from both, it is known as an autosomal recessive pattern (Calendar 2013).
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.
Both of these methods can help determine and eliminate genetic disorders, as certain conditions can be screened out using these technologies. As discussed in Meseguer et al., more than 300 diseases have been related to sexual chromosomes till date. Case studies also argue the important role of these methods in family balancing for varied family dynamics who aim to compensate their family with a representation of the other sex (Meseguer et al., 2002). Critics have also mentioned that with an increase in demand, these methods could become more economical and widely available, including to couples who may need it due to medical
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.
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.
The most common way of getting Angelman syndrome is through chromosome deletion. This is responsible for about 68% of all cases o...
Lesch Nyhan Syndrome (LNS) was first reported in 1964 by Michael Lesch and William L. Nyhan. It is a rare disorder located on the x chromosome. It is a sex-linked trait, which means that it is passed from mother to son. This condition can be inherited or occur spontaneously as a result of a genetic mutation. It usually appears once in every 100,000 male births. Since the defective gene is recessive, females almost never exhibit symptoms of the disease. However, they can be carriers of the allele.
Fragile X Syndrome is a genetic disorder that causes individuals, mostly men, to develop developmental problems and cognitive impairment. Although men are mostly affected by this disorder, it can affect women as well. Approximately one in four thousand males are affected by Fragile X while only one in eight thousand women are affected (Fragile X syndrome, 2012). Fragile X causes a variety of symptoms such as possible ADD, anxiety, delayed development of speech and language, mild to moderate intellectual disability and hyperactive behavior. Symptoms of Fragile X can start by the age of two, or earlier. Men affected by Fragile X mostly experience mild to moderate intellectual disabilities. Since Fragile X is more common in males, they tend to experience symptoms more than women do. Intellectual disabilities usually only affect about one-third of women that have Fragile X. Children with Fragile X experience anxiety and tend to fidget more than normal or have impulsive actions. Many children may also have ADD which allows them not to be able to focus as much as a normal child would. Behavioral abnormalities are a common feature of Fragile X. Biting at the hands, flailing hands are arms and gaze aversions. When it comes to deficits, they most likely occur in reasoning, processing the environment and mathematics. Individuals with Fragile X may show features of autism, this mainly occurs in only about one-third of individuals with Fragile X. Another symptom of Fragile X is seizures. Again, since Fragile X is more common in males, seizures are more common in males. While only five percent of women experience seizures, about fifteen percent of males experience seizu...
Choice “E” is the best answer. This patient has Zollinger-Ellison Syndrome (ZES), which is caused by a gastrin-secreting tumor of the GI tract. The gastrin secretion in turn activates the ECL cells in the stomach. These cells release histamine which stimulates the parietal cells in producing acid. ZES can occur as a part of a genetic syndrome (MEN 1) or sporadically. The offending tumor is located in the duodenum, pancreas, or abdominal lymph nodes. Abdominal pain, heartburn and diarrhea are the most common symptoms in ZES patients. In patients in whom MEN1/ZES is suspected, a history indicative of kidney stones, elevated calcium levels(i.e., hyperparathyroidism), and pituitary disorders (i.e., adenomas) should be sought. The diagnosis of Zollinger–Ellison
The set of chromosomes that an individual has is called the person’s karyotype. A karyotype test is one of the many important tests performed when determining a person’s gender. This test is done by collecting genetic information about a person including their chromosomes. Examining these chromosomes through karyotyping allows determining whether there are any abnormalities or structural problems and also if the person is male or female. A human has 23 pairs of chromosomes. Twenty-two of these pairs, are called autosomes, and they look the same in both males and females. But the 23rd pair, the sex chromosomes, is different between males and females. Females have two copies of the X chromosome, while males have one X and one Y chromosome.
"Learning About Klinefelter Syndrome." Learning About Klinefelter Syndrome. National Human Genome Research Institute , 13 Oct. 2011. Web. 9 Feb. 2014. .