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What causes Turner syndrome?
Turner syndrome occurs when part or all of an X chromosome is missing from most or all of the cells in a girl’s body. A girl normally receives one X chromosome from each parent. The error that leads to the missing chromosome appears to happen during the formation of the egg or sperm.
Most commonly, a girl with Turner syndrome has only one X chromosome. Occasionally, she may have a partial second X chromosome. Because she is missing part or all of a chromosome, certain genes are missing. The loss of these genes leads to the symptoms of Turner syndrome. 1
Sometimes, girls with Turner syndrome have some cells that are missing one X chromosome (45,X) and some that are normal. This is because not every cell in the body is exactly the same, so some cells might have the chromosome, while others might not. This condition is called mosaicism (pronounced moh-ZEY-uh-siz-uhm ). If the second sex chromosome is lost from most of a girl’s cells, then it’s likely that she will have symptoms of Turner syndrome. If the chromosome is missing from only some of her cells, she may have no symptoms or only mild symptoms.
- National Human Genome Research Institute. (2011). Learning about Turner syndrome . Retrieved June 14, 2012, from https://www.genome.gov/Genetic-Disorders/Turner-Syndrome
The Turner Syndrome Society of the United States: Advancing knowledge, facilitating research, and supporting all those touched by Turner syndrome.
Mental Development in Children With Down Syndrome Research Paper
Down syndrome is a chromosomal disorder resulting from the existence of an extra copy chromosome 21. The condition got its name from John Land Down; the doctor who first described it. Down syndrome is associated with symptoms that impair cognitive ability, physical development and often alter facial appearance.
Down syndrome patients are also prone to various health complications including heart disease, hearing problems, dementia, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea and complications with their intestines, eyes, skeleton, and thyroid. Research has shown that the odds of having a baby with Down syndrome grow as the woman ages.
People with Down syndrome have largely varying levels of mental developmental disability. A few of these individuals have notable to extreme mental disability while others show little or no mental problem symptoms. Downs syndrome occurrence is estimated at about 1 in 800-1000 births.
A number of factors affect this statistic but the most profound influencing factor has been found to be the age of the mother. It is not unusual for people with the proper set of chromosomes to share some physical features associated with Down syndrome. Some of these shared features may include an unusually small chin, an unusually round face, a large protruding tongue, Simian crease across palms, uneven toe spacing and poorly toned muscles (Kumin, 113).
The health and overall development of children with Down syndrome can be greatly improved by early intervention, regular screening for any complications, vocational training, and the existence of a caring and supportive social environment. The physical implications of Down syndrome caused by the chromosomal disorders can however not be overcome. Ironically, Down syndrome has some positive health implications; Down syndrome patients have been observed to have greatly reduced incidences of cancer.
Mental development in children with Down syndrome varies greatly and at birth, it is not possible to predict the extent to which the child will be affected in terms of physical symptoms and cognitive development. Intervention methods for these children are normally unique depending on the individual and are developed soon after birth to ensure that the child gets the best chance at leading a normal life (Dykens, 250).
Speech delay is common among individuals with Down syndrome and the individuals need to be taken through speech therapy to help them develop speech. Walking in children could also be impaired by Down syndrome. Some children will not walk up to age 4, while others are able to walk at age 2.
Language learning can be enhanced by screening for ear problems and hearing loss, employing hearing aids (as necessary) and fostering timely communication intervention. The use of augmentative and alternative communication methods is common to aid in communication. Some of these methods include body language, pointing, signs, objects, and specially designed graphics.
Down syndrome does not have a cure or standard management program due to the diversity in its manifestation. Some individuals may need intensive surgery and therapy while others have minimal health complications and can lead normal lives without the need for any therapy. Parents of children with Down syndrome have come together to try and find alternative therapies to improve mental growth and physical appearance. Suggested methods are plastic surgery and nutritional supplements (Roizen, 150).
Ethically, there have been concerns about the number of abortions associated with Down syndrome. In the year 2002, 91-92% of pregnancies in the US diagnosed with Down syndrome were terminated. In the UK, the figure remains relatively constant at about 92%.
Strides have been made to ensure that individuals with Down syndrome are accepted more in society to facilitate their leading normal lives. Parents, teachers and other stakeholders have in recent years advocated the inclusion of these individuals in society rather than exclude them in isolated institutions as was the case before.
Works Cited
Dykens, Elisabeth M. “Psychiatric and behavioral disorders in persons with Down syndrome .” Mental Retardation and Developmental Disabilities Research Reviews 13(2007):272-278
Kumin, Libby.”Speech and language skills in children with Down syndrome.”Mental Retardation and Developmental Disabilities Research Reviews 2(1996):109-115
Roizen, Nancy J. “Complementary and alternative therapies for Down syndrome.”Mental Retardation and Developmental Disabilities Research Reviews 11(2005):149-155.
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Turner Syndrome, in order to provide information and support for family planning and prenatal testing. In conclusion, Turner Syndrome is a rare genetic disorder that can cause a range of physical and developmental abnormalities. While there is no cure for the disorder, early intervention and
gene and hormonal contributions. T urner syndrome (TS) is a genetic disorder that. affects approximately 1/2500 females due to the. loss of some X chromosome material, most often. one of the two X ...
Turner syndrome is caused by a missing or partially missing X chromosome. All people have 46 chromosomes in each cell of their body (except the egg and sperm). The 46 chromosomes come in pairs because a person receives one of every chromosome from their mother and the matching member of the pair from their father. The first 22 pairs of ...
Two adult cases wherein significant cardiovascular diseases were detected during the transition period of Turner syndrome are reported, providing significant information for improving lifelong cardiovascular health issues in TS. Cardiovascular disease is one of the most important complications in girls and women with Turner syndrome (TS). Although the latest international guideline provides ...
Occasionally, she may have a partial second X chromosome. Because she is missing part or all of a chromosome, certain genes are missing. The loss of these genes leads to the symptoms of Turner syndrome. 1. Sometimes, girls with Turner syndrome have some cells that are missing one X chromosome (45,X) and some that are normal.
The Turner Syndrome Society's mission is to advance knowledge, facilitate research, and support all those touched by Turner syndrome. (Formerly Twitter) 12620 FM 1960 W Rd, Suite A4 #210 Houston, TX 77065, 1-800-365-9944. 501(c)(3) nonprofit organization . EIN is 41-1596910.
Down syndrome is a chromosomal disorder resulting from the existence of an extra copy chromosome 21. The condition got its name from John Land Down; the doctor who first described it. Down syndrome is associated with symptoms that impair cognitive ability, physical development and often alter facial appearance. We will write a custom essay on ...