Klinefelter syndrome, although it can sometimes appear as an extremely uncomfortable and complicated condition, is nevertheless on that can be controlled, and to an extent, managed. This syndrome is relatively easy to diagnose, as the telltale sign that reveals the presence of Klinefelter is having two X chromosomes (ex. XXY), as opposed to a single X chromosome (ex. XY). Overall, this brings a person’s chromosome number to forty-seven, as opposed to the normal forty-six. Under a light microscope, a diagnosis can be made and delivered to the patient extremely quickly. Taking on the role of a doctor and explaining this diagnosis to a young male—especially one who wishes to have children—is not an easy task. The information needs …show more content…
When reproductive cells reproduce, random events sometimes occur. In this case, when the chromosomes lined up in the middle of the cell and got ready to separate, that part did not go as planned. While some chromosomes split according to the “blueprint,” with each cell getting a single copy, some chromosomes did not split evenly. This phenomenon, called nondisjunction, is what led to having the three sex chromosomes instead of the normal two. The problem that would probably cause the most immediate issue to him would be the fact that this disorder is infamous for interfering with male development. The extra X chromosome(s) stunt the production of testosterone, while simultaneously increasing the production of estrogen. However, no matter how bad the situation may seem to be, there is a path that can be followed that allows for a “normal” life to be had. The first thing that can (and should) be offered is to start providing hormonal therapy to the patient. Although it is best to start administering these hormones (such as testosterone, follicle-stimulating hormone, and luteinizing hormone) from the age of puberty
Benign prostatic hyperplasia (BPH) is one of the most common ailments that affect aging men. Statistics show that more than half of the entire male population aged 65 have some form of BPH, while about 90 percent of men aged 85 have the condition. Every year, in the United States alone, about a quarter of a million surgeries are performed to correct BPH. As they name implies, BPH is a non-malignant growth of the prostate, the gland that secretes semen, the fluid that transports sperm. Although not harmful, BPH can bring about symptoms that could largely affect the quality of life of its sufferers.
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.
At birth, children with familial dysautonomia are diagnosed by a distinct set of symptoms. (FD Facts) Poor muscle tone and lack of tears are two symptoms that can be detected very early. As they get older they have a hard time maintaining body temperature, they hold their breath for long periods of time and have a delay in speech and walking. The cause of these symptoms is due to a defect IKBKAP gene. Someone with familial dysautonomia has two copies of IKBKAP in each cell, which means a mutation occurred. This mutation disrupts the information in the IKBKAP gene that helps the production of IKAP protein. The IKAP protein is used for brain functions but when the mutation occurs, not enough of the proteins are made for the brain to function properly...
Myotonic dystrophy, type 1, is a genetic disorder which is linked to chromosome number 19 in humans. The dystrophia myotonica protein kinase gene is located on the q arm of the chromosome at the locus of 13.32. It is an autosomal dominant disorder, which means that the individuals that are affected by this disorder and contain at least one dominant allele for the dystrophia myotonica protein kinase gene. The disorder is caused by a series of repeats of a trinucleotide region that is expanded beyond the normal levels (Musova et al., 2009). The trinucleotide region is a series of repeats of CTG in the untranslated region of the dystrophia myotonica protein kinase gene. The severity of the disorder is associated with the number of repeats the individual has within the gene. Normal individuals tend to have between 5 and 37 repeats while an individual with a very mild myotonic dystrophy may have 50 to 150 repeats, and if the disorder is discovered at the time of birth the individual will have over 2,000 repeats of the trinucleotide region (Musova et al., 2009). Myotonic dystrophy, type 1, affects multiple organ systems of the body and is relatively slow to progress. Myotonic dystrophy, type 1, is categorized by alterations of the beating pattern of the heart, faulty dystrophin proteins, clouding of the lens of the eye, decreased functionality of the gonads, balding, and myotonia (Musova et al., 2009). Myotonia is described as the slow relaxation of any muscle type, which will cause the individual to use extended effort to simply relax the muscles after they have been contracted. Muscular dystrophy causes an individual to experience muscular deg...
...e to me in order to try and regulate my periods. If I did not want to have a child then he would have prescribed some type of birth control pill to aid in this process of regulating my cycle. The little cysts form when my egg comes out and does not go any further than the outside of my ovary. My egg latches on to my ovary and forms into a cyst. This is what caused me irregular menstrual cycles. I am currently overweight and trying to get it under control by exercising and dieting. PCOS is something that is common among a lot of women and it can happen to anyone even the healthiest woman.
The most common way of getting Angelman syndrome is through chromosome deletion. This is responsible for about 68% of all cases o...
It is associated with a higher risk of pregnancy complications and certain ovarian cancers. Due to the importance of this condition, it is critical that patients understand its causes, symptoms, and treatment. By the end of this article, you will have the answers to these essential questions:
... Clinical Evidence." Archives of Gynecology & Obstetrics 287.6 (2013): 1137-1149. Academic Search Premier. Web. 5 Oct. 2013.
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.
I do not know for certain whether John’s condition was congenital or not however one of the possibilities is that John may have Cryptorchidism which is a congenital disorder where one or both testicles fail to descend into the scrotum. (Wilkins and Williams, 2010) It affects 30% of premature male neonates and 3% term babies. (Wilkins and Williams, 2010) In 80% of the cases the testicles fall into place, however some do not resolve by self and needs surgery, the earlier it is done the higher the success rate, up to 95%. (Wilkins and Williams, 2010)
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.
With this chromosome anomaly typically comes an extra couple of inches of height. Tall dad, plus extra X chromosome equates to my being six inches taller than my mother and nearly a foot taller than most of my cousins. I consider my height to be one of my super powers which I
...omosomes or genetic/chromosomal disorders. The most common type of genetic or chromosomal disorder is Down Syndrome or trisomy 21 (Cherry, n.d.). The condition occurs when a child has three chromosomes at the site of the twenty-first chromosome rather than the normal two. Some of the most common signs of Down Syndrome include round face, thick tongue, slanted eyes, hearing problems, heart defects, and intellectual impairment.