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Turner's syndrome case study
Turner syndrome
Turner's syndrome case study
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Turner Syndrome
Turner syndrome occurs in approximately one in every 2,000 female births (Overview par. 1). Every one in 2,000 girls born may not seem like a great deal, but adds up to be eventually. No matter how many girls have Turner syndrome, they all face challenges because of the chromosomal disease. The syndrome was first discovered in 1938 when Henry Turner published a book about seven girls who shared unique features. The exceptional features included, “short stature, lack of sexual development, cubitus valgus (arms turning out slightly at the elbow), webbing neck, and a low hairline in the back” (Davenport 3). Not all girls with Turner syndrome face the same exact problems, but a majority of them do. Short stature and non-working ovaries are the characteristics Turner’s guarantees. Turner syndrome is now defined as “a chromosomal condition that alters development in females” (Learning About Turner syndrome par. 1). The condition is not inherited, but is indeed genetic. Although girls with Turner syndrome may be more prone to various health issues, with love, support, and some minor accommodations, they can live their life with positivity and happiness.
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...
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...rowth hormone treatment is the largest influence of a girl’s ultimate height,
Pahl 10 particularly if the treatment is started at a young age (Ross par. 15). The growth hormone treatment can eventually increase the girl’s final adult height by several inches.
Support, love, and some minor accommodations can help girls with Turner syndrome deal with their various health issues and live their life with joy and positivity. The variety of characteristics in girls with Turner syndrome is astonishing. There are many different treatments and devices there to help all of the girls living with Turner syndrome lead an ordinary life. The families should teach their children about God and how He uses Turner syndrome to affect their life in a positive aspect, not a negative one. Love and support can help a girl to succeed in life because of the belief she finds in herself.
The experience changed her life, she learned to rethink her own attitude and self determination. I learned that people with mental retardation are not to be separated from society or even treated with less respect because of their disability. “Riding the Bus with My Sister” taught me to never neglect people with mental disabilities. Readers learned that people with mental retardation, just like everyone else, have families, desires, and determination. They cry, they laugh, they have emotions just like the rest of us. We can learn new things from those suffering from mental retardation. ‘Riding the Bus with My Sister” taught me that civil rights apply to
ASD individuals may find it hard to communicate and socialize with others around them. However, because each child is unique, they have their own unique abilities and ways of responding to new experiences. Other issues children with ASD have include; anxiety, sleeping problems, and learning disabilities. Those who are diagnosed with ASD or any other disability are usually judged and bullied. In the documentary Violet’s mother says she is afraid of her child being labeled and underestimated because she is diagnosed with autism. A child’s disability can also affect their family members. Family members may have a difficult time understanding and getting to know the autistic child in order to provide for them. They struggle to find interventions such as treatment and therapy for them, the right medical care, and trying learn to cope with all this. At times parents and caregivers can also feel stressed or irritated knowing they have to fulfill all of the child’s needs. Siblings on the other hand, may find it unfair that the autistic child gets the most attention and
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.
Disabilities can come in many forms and can cause many attributes of a person to shift or change over the course of time. Webster’s Dictionary defines disability as “a physical or mental condition that limits a person’s movements, senses, or activities,” as well as, “a disadvantage of handicap, especially one imposed or recognized by the law.” In the short story by Flannery O’Connor, “Good Country People,” we can see described one such person. Joy-Hulga shows both mental and physical conditions of her disability, but also the bravery to overcome her disability. Flannery O’Connor does a fine job showing the readers the difficulties of living with and overcoming a disability.
...romosome they carry cannot compensate for this mutation on their X chromosome. Females with a mutation in the gene that causes Rett Syndrome are able to survive because the presence of the second normal X chromosome partially compensates for the mutation on the other X chromosome.
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.
The paper that I’m writing is on Rett Syndrome. Rett is a rare and severe ‘girls only” form of autism. What is Rett you ask? Well it is neurodevelopment that is found in girls. If you are diagnosed with it they can feel overwhelmed, there is no cure for this disease. You are normally diagnosed with it in the early years (first 2 years of life). There are 4 stages of Rett 1 being the least dramatic case and 4 being the severe. The disorder was identified by Dr. Andreas Rett in 1966, but was not until 1983 when it was started to be researched by Dr. Bengt Hagberg. Apraxia is perhaps the most severely disability of Rett Syndrome that interfering with movement and speech, and eye sight.
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.
Jonathan Juste 4/21/14 Hum. Bio Analysis of Angelman Syndrome In 1965 , Dr. Harry Angelman, an English physician, first described three children with characteristics now known as the Angelman syndrome. Angelman syndrome is a neuro-genetic disorder that is usually diagnosed at a very young age, and it happens within 1 in every 15,000 births.
Rett syndrome is a neurological disorder that mainly affects females. According to “The Molecular Pathology of Rett syndrome: Synopsis and Update”, it states that the disorder starts to be recognizable when the child is between six to eighteen months of age. The affected child will loose their ability to speak and hand movements. Through research, MECP2 is in the X chromosome gene (2006). An estimate of females that suffer from Rett syndrome is 1 in 1,000 and in the United States, it is approximately 16,000 young and adult females that are affected (Rett Syndrome, 2008). In my paper, I will give a brief history of how Rett syndrome was first noticed, discuss the dysfunction in the brain, the development and behavior, and possible treatments.
The desire to have a "normal" child is held by every parent and only now are we beginning to have the ability to select for that child. In preparation to receiving genetic testing, the parents are required to meet with a genetic counselor. A detailed description of the testing methods are reviewed with the couple as well as the risks which are involved with each. Upon an understanding of the procedures, the counselor discusses the many possible outcomes which could be the result of the diagnosis. Finally, before any tests are performed, anxieties from either of the parents are addressed as well as the psychological well-being of the parents.
Swan, S.H., F. Liu, J.W. Overstreet, C. Brazil, and N.E. Skakkebaek. "Growth Hormones Fed to
Autism is an intricate developmental disorder that is characteristically noticed by parents and or diagnosed by parents between the ages of eight-teen months and three years of age. In recent studies, Werner (2001) isolated themes from in-depth interviews conducted with different parents of children with autism. These themes included the following findings: the family’s life revolves around dealing with the child’s autism and unusual behaviors; parents feel losses because they and their children cannot lead a so called normal life; and the family experiences only fleeting moments of actually feeling like a typical family. Autism does not effect a particular type of person it occurs in all social, racial, and ethnic groups.
XYY Syndrome is a rare genetic disorder which affects males due to an extra Y chromosome. Healthy males have 46 chromosomes including one X and one Y chromosome. Men with XYY syndrome have 47 chromosomes, two of which are Y chromosomes. It is not known why the extra Y chromosome occurs. The disorder is present at birth and is estimated to occur in one out of every one thousand live births.
Growth hormones are used to help growth and human development. Growth hormones are used on kids who do not produce the standard amount of hormones. Some can argue that growth hormones is helpful in advancing a child growth development. Moreover, since it is food and drug administration approve it then must be safe. Nonetheless, the after effects of growth hormones can have severe side effect on a kid. This position paper will address how growth hormone for kids has more disadvantages on kids’ growth and health.