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Recommended: Pseudo turner syndrome
Turner’s Syndrome
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.
Symptoms/Conditions/Diagnosis
According to the (http://www.mayoclinic.com/health/turner-syndrome/DS01017/DSECTION=symptoms), females that suffer from Turner’s syndrome may differ in symptoms drastically. In some, these symptoms may be more evident early on in the individual’s life during infancy or even birth. Possible symptoms include:
• Wide or web-like neck
• Receding or small lower jaw
• High, narrow roof of the mouth (palate)
• Low-set ears
• Low hairline at the back of the head
• Drooping eyelids
• Broad chest with widely spaced nipples
• Short fingers and toes
• Arms that turn outward at the elbows (cubitus valgus)
• Fingernails turned upward
• Swelling of the hands and feet, especially at birth
• Slightly smaller than average height at birth
• Delayed growth
• Sensitivity to noise
Although for some females, symptoms of Turner’s syndrome aren’t as well evident until later on in the indi...
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...l intelligence, behavioral functions, and self-perceived physical and mental health according to (http://www.turnersyndromefoundation.org/psycho-social.html). Even though females with Turner’s syndrome don’t suffer from major psychological issues, they do suffer from subtle difficulties. They stated that this may included impairments in, nonverbal skills, slowed response times, increased rates of attention deficit disorder, increased risk for social isolation, immaturity, depression, an anxiety while (http://www.cnn.com/HEALTH/library/turner-syndrome/DS01017.html) stated that females with Turner’s syndrome having difficulties functioning well in social situations. It is thought that due to the inability to function well in social situations, these individuals behavior could be deemed as inappropriate which could lead to possible psychological issues mentioned before.
Tay-Sachs disease is a rare hereditary disease found mainly in infants but is also found in juveniles and adults. It is caused by the abnormal metabolism of fats and is characterized by mental deterioration, blindness, and paralysis. There is no available treatment for this disease.
Twin studies have been used to distinguish between genetic and environmental factors for many disorders in the general population including ectodermal dysplasia, Ellis-van Creveld, and anencephaly. This review focuses on genetic disorders affecting monozygotic, dizygotic, and conjoined twins to gain a better understanding of them. Many studies focus on twins because they have a nearly identical genome, which eliminates environmental factors. In case studies, the concordance rates in monozygotic twins have supported that certain disorders were caused by genetics and not the environment. The discordant values in twins will also be evaluated briefly. Twinning studies have also shown linkages between specific disorders and the genes responsible for them. Knowing the location of these genes allows patients to be treated quickly and efficiently. This paper will discuss the possible causes of twinning and the various methods of identifying abnormalities in twins. These methods also allow preventive measures against the rise of birth defects during prenatal development. Epigenetics in twins is also viewed through the perspective of effects on them. Treatments for genetic disorders in twins are reviewed, ranging from the restoration of malformed teeth to the separation of conjoined twins. Support groups for twins in treatment, and their families are also briefly reviewed.
The symptoms of Rett syndrome can vary dramatically from one person to another. This is why a wide range of disabilities are associated with Rett syndrome. The symptoms often appear in stages. Not all individuals affected by it will experience all of the
Matson, J. L., Minshawi, N. F., Gonzalez, M. L., & Mayville, S. V. The Relationship of Comorbid Problem Behaviors to Social Skills in Persons With Profound Mental Retardation. Sage Journals, 30, 496-506.
Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot be cured, treatments can be given to lessen the effects. Like other diseases, Waardenburg Syndrome has certain symptoms, inheritance patterns, diagnosis and treatments.
A Comparison between Christopher Boone and Raymond Babbitt Asperger s disorder is not a disease, but a developmental brain disorder. It is four times more prevalent in boys than in girls and it shows no racial, ethnic or social boundaries. Family income, lifestyle and educational levels do not affect the chance of Asperger s disorder occurrence. According to Hans Asperger: It is important to know that the person with AS perceives the world differently. Therefore, many behaviours that seem odd are due to neurological differences and not the result of intentional rudeness or bad behaviour.
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
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.
Many children are diagnosed with Jacobson Syndrome after birth, but there can be prenatal tests using cytogenic analysis. However a miscarriage may occur.
The first category of Dr. Bushong's theory is genetics. Due to defects in fertilization, fetuses can have a chromosomal pattern of XXXY (mosaic hermaphrodite), XXY, or XYY. These abnormalities result in deformed genitalia, sterility, or an individual whose physical appearance as one sex does not match their genetic makeup as a member of the other...
As a result of these symptoms, people diagnosed with SPD have great difficulty with social relationships, and are often alienated from mainstream society. This paper aims to investigate the suspected causes of this strange disorder, focusing on environmental and hereditary factors.
...dern-day science has created many ways to diagnosis this syndrome, so many women who are affected go undiagnosed.
I am researching Klinefelter syndrome. It is a chromosomal disorder that affects only males, and the disorder is neither dominant or recessive. If you or anyone else in your family has had this disorder, klinefelter syndrome, and you would like to find out if your child will be having it, you will need to let a doctor know about his past health, do a physical exam, or order a chromosome test called karyotype. There are effects that come with klinefelter, some noticeable effects are sparse hair, enlarged breasts, and wide hips. A mens voices will not be as deep, and they will not be able to father children.