Turner’s Syndrome, which is one of the most common chromosomal abnormalities, is defined as “a syndrome with a chromosome count of 45 and only one X chromosome.” Turner’s was first described in 1938. Henry Turner, an endocrinologist from Oklahoma City, was the first to discover this syndrome. He was curious about why seven of his female patients, six adolescents and one adult, who he was treating for dwarfism and lack of development, were not responding to the treatments. He described the women as not matured, with short necks and low hairlines in the back, and an increased angle at which the elbow was bent. After many tests, the results showed that all of the women were missing an X chromosome.
Turner’s affects the second X chromosome in a chromosome pair. This X is either incomplete or missing completely, which causes a decrease in fetal development and also a decrease in the development after birth. Since Turner’s affects the second X chromosome, this means that Turner’s only affects females. However, females of a certain race, nationality or those who live in a certain region of the world have the same risk of having Turner’s. One in every 2000 to 2500 baby girls are born with Turner’s, according to the National Health Service in the United Kingdom. Normally if a baby is conceived with an X chromosome missing, the body will naturally abort the baby, which is a miscarriage. Turner’s is usually the cause of almost 10% of miscarriages in the first trimester.
Monosomy is the reason that one X chromosome is missing completely, which means that every cell in the person’s body is missing one X chromosome. Mosaic Turner Syndrome, also known as mosaicism or Turner mosaicism, is an error that occurs in the early stages of fetal devel...
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...er’s. The Turner Syndrome Support Society, located in the UK, helps women and girls affected with Turner’s and their families by offering support, advice, and information. The Turner Syndrome Society of the United States is an association that provides health-related resources to the patients, families and physicians.
Here are some interesting facts about Turner’s. This syndrome affects 60,000 women in the United States, and is seen 1 to 2500 babies born and about 800 cases are diagnosed each year. The single X chromosome comes from the mother in 75% to 80% of cases. A woman with Turner’s Syndrome, who is untreated, averages around four feet eight inches in height. A female, XX, who is missing one of the X chromosomes, can survive. However, a male cannot survive without the X chromosome. Butterflies are seen as a symbol of hope for girls who have Turner’s Syndrome.
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.
However, in a person with PWS, the 15th chromosome has been given 2 genes from the mother, and none from the father. This is called maternal UPD ( uni-parent disomy) in which 2 copies of the maternal chromosome are inherited with no paternal contribution. Despite the presence of 2 intact chromosomes, there is a functional abnormality in the imprinting that may lead to the absence of gene expression from the paternally donated chromosome, resulting in the PWS phenotype (physical trait) that is common in persons with PWS.
3) Guillain-Barré Support Group, The homepage for the Guillain-Barre Syndrome Support Group based in the United Kingdom. The organization disseminates information to sufferers of the syndrome and their family and friends.
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.
Turner Syndrome is a genetic disorder that is characterized by the absence of part or all of the second X chromosome in women. Women who have Turner Syndrome typically have short stature, sexual infantilism, congenital webbing of the neck, and cubitus valgus, which is when the forearm is angled away from the body at a greater degree than normal. A number of health issues accompany the absence of this X chromosome, indicating that a large number of specialists are needed in order to properly treat this disease. These specialists include embryology, pediatrics, gynecology and obstetrics, endocrinology, cardiology, gastroenterology, otorhinology, and ophthalmology (Gravholt, 2005).
The most common way of getting Angelman syndrome is through chromosome deletion. This is responsible for about 68% of all cases o...
Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 21 in each of the body's cells.
The most commonly found, and commonly known type of Trisomy eighteen which occurring in about ninety-five percent of all cases reported is the type known as full trisomy. During the formation of the full trisomy type of trisomy eighteen the extra chromosome occurs in every single cell in the baby’s body. This type of trisomy eighteen is not hereditary however, which means this type is not found as family trait, it is a random type. The next type of trisomy eighteen is known as partial or translocation, which happens to occurs in only about three percent of patients with trisomy eighteen. Partial trisomy eighteen occurs when people have two copies of chromosome eighteen instead of one, and a piece of extra genetic material from the chromosome eighteen. Partial Trisomy eighteen syndrome may be caused by hereditary factors. The final type of trisomy eighteen is known as the Mosaic Trisomy eighteen. Mosaic Trisomy is very rare type of trisomy ei, found in about two percent of all trisomy eighteen cases. Mosaic Trisomy eighteen is when an extra copy of the eighteenth chromosome is found in some, but not all of the cells in the person’s body. Mosaic trisomy eighteen is however not hereditary. No matter the type of trisomy eighteen a person is diagnosed whether it is full, partial, or mosaic, it is important that people understand that trisomy eighteen was not caused by anything done or not done by
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.
of serious impairment. Down syndrome is caused by an extra chromosome 21. It also causes
Developmental disability services come from someone outside your family unit who works in Human Services. This support is referred to as “services” and comes from medical, educational, and federal and state government programs.
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.
There are numerous careers related to special needs, all of which require different schooling, training, mentorships, and other types of preparation. Any type of job working with children with mental and physical disabilities can be challenging but also very rewarding when one sees the child improve (Tyrer, 2007). Different types of careers affect special needs children in different ways. For example a teacher will help them thrive in school, while other careers may help the kids improve at home or in a public setting. Special needs workers should be creative, flexible, and personable to be able to meet the needs of the child and also provide useful information for the child’s parents. It is important for one to at least complete minimal required training so one will be fully prepared to work with a child with any type of delay. Often children in schools do not improve at a higher rate because their teacher may not have the necessary training to assist them (Marković, 2014). No matter what special needs career someone chooses, everyone should have one common goal: to help special needs children thrive. Marković from the article “Work with Kids with Special Needs” puts it perfectly when she states, “the main aim is that children with disabilities get the chance to grow, learn, and socialize with children with normal development, and that these children can adapt and learn together with children with special needs. In this way, they develop understanding, tolerance, and humanity” (Marković,