Klinefelter syndrome or Klinefelter's syndrome, also known as XXY result which appears in male(XY) organism. This term is to describe how males have an extra X chromosome in almost all of their cells in the body. The normal human karyotype for males is illustrated as XY, for a total of 46 chromosomes, meanwhile Klinefelter syndrome causes the victim to contain in total of 47 chromosomes. Females contain the set of two X's (XX) , rather than having just one X and one Y. Due to the extra chromosome individuals with this syndrome are referred as "XXY males", or "47,XXY males”. Klinefelter syndrome is named after Dr. Henry Klinefelter who first discovered the symptoms and discoveries found in males with an extra X. This chromosome constitution (karyotype) only appears in every one out 500 births. Although it is very common people say it is very rare to detect it due to no symptoms or differences in the lifestyle of the male. If physical symptoms are identify they are usually develop during puberty development , or otherwise known when the male is a teenager. This syndrome c...
Marfan syndrome is an inherited disorder that affects the connective tissue of the body (“What is Marfan Syndrome?” n.d.). The connective tissue plays a vital role in supported the tendons, heart valves, cartilage, blood vessels, and more parts of the body (“Connective Tissue,” n.d.). “What is Marfan Syndrome?” (n.d.) explains that the condition has no cure, and those who have it lack strength in their connective tissue, affecting their bone, eyes, skin, nervous system, and lungs. Furthermore, Marfan syndrome is common, and it is imperative to understand how the body is affected by it, the symptoms, and the treatment of this condition.
First and foremost, Eisenmenger syndrome was initially described in 1897 when German physician, Victor Eisenmenger, reported on a patient with symptoms of dyspnea and cyanosis from infancy that subsequently developed heart failure (Connolly, 2014). The postmortem description was revealed and a ventricular septal defect was discovered (El-Chami et al., 2014a). With that being said, this had been the first time that the link between a large congenital cardiac shunt defect and the development of pulmonary hypertension had ever been noted (El-Chami et al., 2014b). The normal heart has four chambers. The two upper chambers are separated from each other by the atrial septum (NORD, 2014a). The two lower chambers are known as ventricles and are separated from each other by the ventricular septum (NORD, 2014b).
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.
Turner’s syndrome is a genetic conditions that affects the female’s sex chromosome. In (http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001417/) Turner’s syndrome occurs when cells are missing all or part of an X chromosome. It’s common of the female patient to only have one X chromosome. Although, some individuals may have two X chromosomes but one is defective. It is thought that an estimated 1 out of 2000-2500 females suffer from this genetic condition worldwide but it’s usually females with this condition don’t survive their birth. Due to this abnormality, the genes that is defective “affect the growth and sexual development of the female” (http://learn.genetics.utah.edu/content/disorders/whataregd/turner/). However other disabilities and delays do occur even though these traits can vary case by case.
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...
Angelman syndrome (AS), first described by Dr. Harry Angelman in 1965 is a neuro-genetic disorder that arises in one of 15,000 live births in the nation. This syndrome most commonly presents developmental delays, minimal speech, and the inability to walk; these are very common symptoms of many other more frequently diagnosed disorders. It is often misdiagnosed as cerebral palsy or autism due to the similar characteristics it possesses and its lack of identification. However, the characteristic possessed by the individual who has Angelman is the expression of happiness. This kind of expression is associated with general exuberance and profuse smiling and laughing, as well as an elated personality. Due to the name and the joyful demeanor, carriers of this syndrome are called Angels.
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.
Every cell contains forty-six chromosomes (twenty-three pairs). One, out of the twenty-three pairs, is in control of a person’s gender. There two different kinds of chromosomes: X and Y. Males are born with one X chromosome and one Y chromosome. Females, however, are born with two X chromosomes. According to Cindy Dunham and Catherine H. Ward, girls with Turner syndrome are missing part of, or all of the X chromosome (3). The chromosome becomes absent before or shortly after conception (Overview par. 3). Girls diagnosed with Turner syndrome are confirme...
The most common way of getting Angelman syndrome is through chromosome deletion. This is responsible for about 68% of all cases o...
It is estimated that 1 out of every 5,600-7,700 boys ages 5-24 have Duchene or Becker muscular dystrophy. (“Data & Statistics,” 2012 April 6) Muscular dystrophy is a group of genetic diseases defined by muscle fibers that are unusually susceptible to damage. There are several different types of muscular dystrophy some of which shorten the affected person’s lifespan. (“Muscular dystrophy: Types and Causes of each form,” n.d.) There is a long history of the disorder but until recently there wasn’t much knowledge of the cause. (“Muscular Dystrophy: Hope through Research,” 16 April 2014) Symptoms are obvious and can be seen as soon as a child starts walking. (“Muscular Dystrophy,” 2012 January 19) Although muscular dystrophy mostly affects boys, girls can get it too. (“Muscular Dystrophy,” 2012 January 19) There is no cure for muscular dystrophy but there are several types of therapy and most types of muscular dystrophy are still fatal. (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
Any child can be born with Down syndrome, which could include your child. Many people don’t really down what Down syndrome is. Around the entire world not many really know what Down syndrome really is and the importance of it. Down syndrome has different causes that one should know about. There are many different types of health issues with Down syndrome. Down syndrome defines all the causes and the different health issues that Down syndrome holds.
I met Kimmy in the seventh grade when we had the same class. It was a normal student class but
The X-chromosome is one of the two sex chromosomes(the other being Y) that is responsible for a variety of factors in a child’s developmental growth, the most commonly known being their biological sex. Researchers at the National Center for Biotechnology Information have studied the X-chromosome and its relation to homosexuality in men. Preceding their studies, the researchers hypothesized, “If the X Chromosome contains a gene that increases the probability of an individual’s being homosexual, then genetically related gay men should share X chromosome markers close to that gene. If no such gene exists, then no statistically significant correlations between sexual orientation and X chromosome will be observed” (Bocklandt, Horvath, Vilain, Hamer).
There is no specific treatment for down syndrome. A child born with a gastrointestinal blockage may need major surgery immediately after birth. Or a Certain heart defect may require surgery depending on how serious it is. Obesity can be a problem in older kids or adults so they need to keep active but before they do so they have to get their hips and neck examined. Behavioral discipline can help people with Down syndrome and their families deal with the frustration, anger, and compulsive behavior that will occur. Parents should learn to help a person with Down syndrome deal with frustration and anger. Although, it is important to encourage independence.