Klinefelter Syndrome is the presence of an extra X chromosome in the male. Klinefelter disease is the most common chromosomal malfunction. Klinefelter Syndrome Is a fault in cell division when the reproductive cell of a parent is being designed. (Kids Health 2015) Klinefelter Syndrome occurs in 1 out of 1000 males. (Dennis O’Neal, 2013) In identifying the Klinefelter syndrome, the signs and symptoms fall into four main categories: Physical Symptoms, Language and Learning Symptoms, and Social and Behavioral Symptoms. Most boys with KS tend to have more feminine physical aspects. Boys with Klinefelter Syndrome may be slightly taller, fatter around the belly, clumsier, slower in developing, coordination, speed, and strength. When puberty hits, …show more content…
(Kids Health 2015) It occurs sporadically. There isn’t a certain age, but tests are definitely used to diagnose KS with hormone testing and chromosome analysis, which usually involves blood tests. (Mayo Clinic Staff 1998-2015) There isn’t a cure to this condition, but there are treatments available. The lack of testosterone sends many males with KS to testosterone replacement therapy helps with maintaining suitable levels of red blood cells, muscle strength, bone density, and reproductive function. (Cleveland Clinic 2009) Chromosome analysis is the evaluation of determining how a person’s chromosomes are built to discover any malfunctions or abnormalities (American Association for Clinical Chemistry, 2001 – 2015). A KS patient could also receive breast reduction surgery. It would be wiser to have this operation after the testosterone replacement therapy because the therapy actually promotes breast growth. To help the language and learning symptoms, speech and language therapy can be provided. Physical and occupational therapy may be helpful in rebuilding muscle and coordination. (Klinefelter syndrome and other sex chromosomal aneuploidies, October 2006) Depending on the severity of the syndrome, you can live a normal life. Most men get jobs, form relationships and have a normal life span. (Your Hormones, 2014) Life expectancy is normal unless in extreme cases 2.1 years. (Alexandra M. Molnar, MD; Genji S. Terasaki, MD; John K. Amory, MD, 2010) Doctors and scientist are working hard to conduct new information on Klinefelter Syndrome. There is no cure, but they are working hard on finding one. Although this syndrome is not new, research is still ongoing and they need more people to volunteer and really help with new discoveries. Klinefelter Syndrome is on its way. (EMedTV,
The patient whose chromosomes are organized on the Karyotype Worksheet #1, is a normal female as indicated by her XX sex chromosomes, with a total number of 46 chromosomes and her karyotype doesn’t exhibit any aneuploidy or structural errors.
Originally, researchers and scientists thought a duplication in the Y chromosome was the connection between how genetics influence crime. The male karyotype would be XYY instead of XY. They have a tendency for hyper-aggressiveness and violence (Wachbroit). This unique karyotype also leads to a significant number of abortions if the fetus carries the karyotype. The other effects of this mutation are men that are taller, less intelligent, hyperactive, and are more impulsive (Wachbroit). After much research no one could relate this to how it
Duchenne Muscular Dystrophy is a genetic disorder that is passed on through the x chromosomes. Only men are
Imagine your child dying a few months after they are born because of the genes you passed down to them. This is possible with many genetic diseases; one such disease can be Krabbe disease. Krabbe disease changes many aspects of a diagnosed person’s life because of the troubling and debilitating side effects. Children with Krabbe disease might not be able to complete daily activities. This can affect not only the child but also the people around them.
Turner Syndrome is a disorder that affects one in every two thousand girls. Usually girls are born with only one X chromosomes. Some are born with an extra chromosome, or sometimes even half of one is missing which causes Turner Syndrome.
The specific metabolic disorder that I picked for this discussion is Krabbe Disease or globoid cell leukodystrophy. The disease destroys the protective coating of nerve cells in the brain and throughout the body causing the nerve cells to stop responding or react unpredictably. The disease is caused by a person receiving two copies of a mutated gene that results in severely curtailed production of an enzyme called galactocerebrosidase (GALC) (Krabbe disease, n.d.). This enzyme is responsible for breaking down certain substances in a cell's recycling center. Unfortunately, in Krabbe disease, not enough GALC was produced so the cells begin accumulating fats called galactolipids which normally are responsible for maintaining the protective coating
Purpose – The purpose of this paper is to discuss Ekbom Syndrome, also known as primary delusional parasitosis.
It is an inherited genetic disease. It is passed down in families in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show any symptoms. Around 1 person in every 150 people are thought to be carriers. There are two types of Krabbe disease the infantile and the late on-set. The infantile form, which affects 85 to 90% of people with
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XYY Syndrome is a genetic disease where a male has an extra Y chromosome. This could then lead to an increased risk of learning disabilities.(Genetics Home Reference). XYY Syndrome
Gothic literature is marked by an obsession with gloom, mystery, and terror. Which occasionally, contains supernatural element while focusing on mankind's capacity for evil. Gothic Romantics present individuals who are easily drawn to sinful actions such as overindulging on drugs and, alcohol which eventually leads to their self-destruction. The people that view the world in a gothic standpoint see the natural world as a dark, decaying, and mysterious. when it does reveal truth to man, its revelations are evil and hellish. This is why Edgar Allen Poe was able to write so many recognizable Gothic literature's because he had been through many tragic events in his life which shaped him into the man he was.
Males will have lose joints and large testes. Boys may have behavioral problems such as hyperactivity, hand flapping, hand biting, extreme fits, and autism. They may also have eye, skin, or heart problems. Girls with fragile X syndrome will have mild mental retardation. Girls may also have difficulty becoming pregnant and have a late menopause. Both men and women may have problems with tremors and poor coordination. Even through there is no cure for children with FXS do benefit from treatment such as therapy and special education
The XXY syndrome, most commonly known as Klinefelter syndrome (KS), only affects males of all ages. This syndrome occurs when there is a random genetic error after conception and is not curable, however treatment can help.All females have XX chromosome and all males have XY chromosomes. Unlike the normal XY type that all males have, males affected have an additional X chromosome which results into many symptoms such as impaired spermatogenesis, low testosterone, and male hypogonadism. Since Klinefelter syndrome is related to the sex chromosomes of males, it is a sex link trait.
Klinefelter syndrome, also known as “47, XXY”, is a chromosomal disorder caused by nondisjunction. Nondisjunction occurs when chromosomes do not separate fully during meiosis. This results in sex cells with the wrong number of chromosomes. A zygote with two X chromosomes and one Y chromosome forms when a normal sex cell, which is a sperm or egg cell, combines with a sex cell which has an extra X chromosome. The extra X chromosome will show up in the karyotype of an infected individual. Individuals with Klinefelter syndrome have two X chromosomes and one Y chromosome, giving them a total of 47 chromosomes, as opposed to the normal 46. Unaffected males have one X and one Y chromosome, and females have two X chromosomes. Even though individuals
Turner Syndrome is caused by a missing or incomplete X chromosome. People who have Turner Syndrome develop as females. Some of the genes on the X chromosome are involved in the growth of your height and sexual development, which is why girls with this disorder are shorter than normal and have incompletely developed sexual characteristics. Within this disorder there can be many symptoms, for example: swelling hands and feet, heart defeat, pregnancy chorionic villus sampling or amniocentesis. There are also major causes contributing to this disorder including a stocky build, arms that turn out slightly at the elbow, receding low jaw, a short webbed neck and low hair line on the back of the neck. Also includes backtracked puberty, ovaries undeveloped properly and effects sexual development.