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Causes and effects of Down syndrome
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There are many different genetic disorders. I choosed down syndrome which is a very common genetic disorder. Down syndrome is caused by an extra copy of genetic material on all or part of the twenty first chromosomes. When someone or all of a person´s cells has an extra full, or partial, copy chromosomes twenty first, the result of down syndrome. There is two other name for down syndrome. That is trisomy Twenty first and there is trisomy G. Those are the first things you need to know about down syndrome. There is prenatal test before the baby is born. They do this test to see if the baby is diagnostic with down syndrome. They also take a screening test or a blood test during the first or second trimester. They can also have a test called
A genetic disorder is a sickness caused by one or many abnormalities or absentees in the genes or chromosomes. One interesting genetic disorder such as cancer, are found genetic but, can also be caused and affected by many by environmental factors such as being exposed to asbestos which may increase the risk of lung cancer and many other cancers. While on the other hand most disorders like Williams Syndrome are genetic and are primarily rare and only affect a limited amount of people about one in every several thousand. Because it is a genetic disorder that is estimated between 1 in 10,000 people worldwide, primarily caused by a micro-deletion on the seventh chromosome is what indicates the disorder being Williams Syndrome.
There are several techniques of prenatal screening. The most common is blood testing. It is used to determine the blood type and Rh factor of a mother and the fetus. This is to prevent the complication caused by antigen-antibody reaction of Rh group of the mother and the fetus which may lead to haemolytic anemia. Besides that, blood test is also able to detect some of the blood borne diseases such as HIV, Hepatitis B, C and D and rubella. Ultrasound, on the other hand, can determine the growth and development of a fetus in the amniotic sac. It can detect structural defects such as spinal bifida and anencephaly, congenital heart defects, gastrointestinal and kidney malformations and cleft lip. Furthermore, genetic test is used to determine the chromosome condit...
A genetic disease is a mutation caused by the absence of a gene or by products of a defective gene. ("Genetic Disease") ("What Are Genetic Disorders?")
Down Syndrome results when one of the three types of abnormal cell divisions involving chromosome 21 occur. Roger W. Harms, a medical doctor, states, “Human cells normally contain twenty-three pairs of chromosomes. One pair comes from your father and one pair comes from your mother.” In each pair, one chromosome comes from the father, and one comes from the mother. One of the three genetic variations that can cause Down Syndrome is Trisomy 21. This version of Down Syndrome occurs more than 90% of the time. It re...
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.
19. Benn PA, Borgida A, Horne D, Briganti S, Collins R, Rodis J. Down syndrome and neural tube defect screening: the value of using gestational age by ultrasonography. Am J Obstet Gynecol. 1997;176:1056–61.
Another technology that has been around for a while is the general ultrasound. In the article by Jennifer Wang she states, “The risk of a patient having a fetus with Down syndrome can be assessed non-invasively using fetal markers seen on ultrasound.
Down syndrome, a genetic disorder, is the most common cause for intellectual disabilities, occurring at an average of one out of every 700 births (CDS, 2006). This disorder is caused by the extra chromosome 21 (also known as Trisomy 21). According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS.
For testing for prenatal genetics, the doctor or mother wants to "determine if a fetus has genetic abnormalities likely to cause physical or mental impairments" (520 Vaughn ). If a mother is over the age of 35, the odds of her having a child with Down syndrome is greater than a mother who is in her 20s. Genetic testing is also performed when there are inherited genetic disorders in the family history or "when ancestry or ethnicity suggests a greater chance of particular genetic disorders like tay-sachs. 520 .... ... middle of paper ...
Bellenir, Karen. Genetic Disorder Sourcebook: Basic Information about Heritable Diseases and Disorders Such As Down syndrome, PKU, Hemophilia, and Von Willebrand Disease. Detroit: Omnigraphics, 1996.
...omosomes or genetic/chromosomal disorders. The most common type of genetic or chromosomal disorder is Down Syndrome or trisomy 21 (Cherry, n.d.). The condition occurs when a child has three chromosomes at the site of the twenty-first chromosome rather than the normal two. Some of the most common signs of Down Syndrome include round face, thick tongue, slanted eyes, hearing problems, heart defects, and intellectual impairment.
Down syndrome is different in every patient from mild to severe but the most common physical signs are low muscle tone, extra skin around the neck, a flattened nose, a single crease in the palm, small ears, small mouth, eyes that are slanted upward, hands that are wide but short fingers, and have brushfield spots (PubMed Health). The National Down Syndrome Society has listed many complications that can occur with Down syndrome patients, for example, individuals with the disorder and are diagnosed with attention deficit hyperactivity disorder have not been proven enough to be said it is very common for children to have ADHD while diagnosed with Down syndrome, but they do show symptoms. The most common complications
Genetic conditions are occurences in which a DNA abnormality is expressed. Some conditions pose a threat to the organism it inhabits, whereas some are neither beneficial nor harmful. 350 million people globally have some type of genetic conditiom, and they're sure to spark interest.
Dr Brian Skotko, a paediatrician at Children’s Hospital in Boston, explains “that 92% of all women who receive a prenatal diagnosis of prenatal diagnoses of Down Syndrome choose to terminate their pregnancy”. We must think and ask do we really get to decide who is enough for this
‘’Down syndrome is a type of mental retardation caused by extra genetic material in chromosome 21’’(1). In the beginning, children with Down syndrome were referred as “mongoloids” because they looked like people from Mongolia but, the term was changed to Down’s syndrome. Down’s Syndrome named after John Langdon Down, the man who first described it (2). Down syndrome due to a genetic cause and it has more than one type and characteristics.