Down syndrome is a genetic disorder in which a person is born with an extra copy of chromosome 21. There are three genetic variations that cause Down syndrome: Trisomy 21, Mosaic Trisomy 21 or Translocation Trisomy 21. There are many ways in which theses disorders affect the body. Trisomy 21 occurs when an egg or sperm comes in with an extra copy of chromosome 21, then, once an embryo is formed and starts to develop, the chromosome is replicated in every single cell of the embryo. Trisomy 21 is the most common type of Down syndrome. About 92% of Down syndrome patients have this type. People with Trisomy usually have physical problems. Mosaic Trisomy 21 happens when an egg or sperm come in with an extra copy of chromosome 21, then, …show more content…
Also, there is a greater risk of a child having Down syndrome if the mother is over 35 years old.
There are three ways that a mother can be tested during pregnancy to see if their child will have Down syndrome. One is amniocentesis, which is the removal and analysis of a small sample of fetal cells from the amniotic fluid. Amniocentesis can not be done until the 14-18th week of pregnancy and with this process there is a lower risk of miscarriage than with the other two processes. Another process is chorionic villus sampling (CVS), which is the extraction of a tiny amount of fetal tissue at 9 to 11 weeks of pregnancy. The tissue is then tested for the presence of extra material from chromosome 21. Chorionic villus sampling has a 1-2% chance of the mother having a miscarriage. The last process is percutaneous umbilical blood sampling (PUBS), which is the most accurate method used to confirm the results of CVS or amniocentesis. During PUBS the tissue is tested for the presence of extra material from chromosome 21. PUBS cannot be done until the 18-22nd week and it carries a high risk of the mother having a miscarriage.
A person that has Down syndrome may have some physical problems or disabilities. Some common physical problems are: short necks, poor muscle tone, a small head and an overall smaller body. Approximately one third of babies born with Down syndrome have heart defects, most of which are now
Though not all children with Down syndrome have the same features, some of the more common features are small head , short neck , flattened facial features, protruding tongue, unusually small ears, poor muscle tone, relatively short fingers and small hands and feet and short height just to name a few.
Although there is no direct treatment for Down syndrome, there are treatments for the complications that go along with the disorder. According to the Mayo Clinic, persons born with Down syndrome have a higher risk of heart defects, leukemia, infectious diseases, obesity, and other related complications (Mayo Clinic Staff). There are available treatments for these conditions such as surgery, chemotherapy and radiation, and regulated diets. The defect in the chromosomes in a person with Down syndrome causes their immune systems to be quite weak. These weak immune systems cause them to be much more susceptible to infectious diseases such as strep throat or chickenpox, which can typically be treated with
. Down syndrome is not a disease that someone catches and is not caused by difficulties during the pregnancy, it is a genetic condition. This condition is caused by the presence of an extra chromosome in the body’s cells and causes a redundant amount of proteins to be formed. All cells of the body derive from a single cell formed by the fusion of a father’s sperm and a mother’s egg. Each cell carries a nucleus full of genetic material known as genes. These genes are inherited from both the mother and father. Each cell normally contains 46 pairs of chromosomes. 23 chromosomes come from one parent and 23 from the other, hence the 46 pairs. When it comes to children with down syndrome, one of the chromosomes does not separate properly and so the
Individuals with Down Syndrome also have an increased risk for having heart defects, digestive problems such as “gastroesophageal reflux or celiac disease”, and hearing loss. Some people who have Down Syndrome have “low activity of the thyroid gland (hypothyroidism)” - an organ in the lower neck that produces hormones.
Trisomy 21 is a disorder that is also considered a chromosomal abnormality because it has an extra chromosome added. This causes the abnormality to have Down syndrome. Like in 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 reproduction cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells.
a child who doesn´t. When a child has down syndrome there are very noticeable symptoms like: flattened facial features, short neck, small head or poor muscle tone . Some other symptoms that could be present are: more flexibility than a healthy person would have, brushfield spots which are tiny dots on the iris of the eye or unusually shaped ears. Although babies with Down syndrome seem to be the same size as normal babies, they end up growing slower causing some of the unusual formalities. Also things like walking or sitting can happen at a later age than usual for kids with this genetic disorder (3). Not only are there physical symptoms that are easier for us to notice but there are also health problems that can occur with this disorder as well. Babies who have Down syndrome are likely to have health problems like: mild to moderate cognitive disabilities, heart defects, depression or behavior problems and many others
The genetic disorder of Trisomy 21, or Down syndrome is one that has often interested me. I understand that many children born with his genetic disorder can in fact live a full life, often with assistance. When answering the question of what exactly Down syndrome is, a good definition can be one describing this disorder as a genetic condition where a person has an extra 21st chromosome. The typical person has 46 chromosomes, therefore the person born with Down syndrome has 47. This extra chromosome brings with it some physical and cognitive characteristics that include mild to severe cognitive delay, low muscle tone, stunted growth, an easily identifiable upward slant to the eyes, generally a deep crease across the center of the palm and the appearance of a flat face. We have to keep in mind however, that each person with Down syndrome is an individual and might have some of these characteristics to different degrees, or possibly none at all.
Children with DS often grow slowly and as they become an adult they are shorter than normal. Their neck can have excess fat and skin which makes it look shorter than normal. Short, stocky arms and legs along with a wide space between the big toe and second toe is also a physical body symptom. As for face shapes and features they can have slanted eyes, nasal bridge that looks pushed in, small ears that look low on the head, irregularly shaped mouth and tongue. A child’s tongue can partly stick out and the teeth can come in late and in a different order than other children. Most children with DS have mild to moderate cognitive disabilities such as impulsive behavior, short attention span and slow learning capabilities. Some health issues that are often symptoms of DS are heart defects, hypothyroidism, eye conditions, hearing and dental problems, respiratory infections and depression. (What is Down Syndrome)
Down syndrome (also known as trisomy 21) is a disorder that makes you physically and mentally more challenged than everyone else but you are still able to grow develop and live a partially normal life. The major causes of Down syndrome are first just getting unlucky and having the 21st chromosome be irregular. But if you have a child when you are older than 35 you have a highly increased chance of getting down syndrome also if you have a sibling with Down syndrome or another kid with-it that can also increase the chance of getting down syndrome. Some symptoms of this disorder are, you can be physically less capable than others can and can have a hard time remembering things and can possibly not be able to achieve what seems to be easy things to do daily. However, most important, they only live to about 80. In addition, they can have a hard time reproducing but can still can reproduce.
known risk factor is advanced maternal age-at age 35, a woman has 1 chance in
Symptoms of down syndrome are the following Flat facial features, Small head, Short neck, Protruding tongue, Upward slanting eyes, that is unusual for the child's ethnic group, Unusually shaped or small ears, Poor muscle tone. Broad, short hands with a single crease in the palm, Relatively short fingers and small hands and feet, Excessive flexibility. Tiny white spots on the colored part or the iris of the eye called Brushfield spots, Short height. Infants and children with down syndrome may be average size at birth , but typically they grow slower and remain shorter than other children the same age. In general, developmental milestones, such as sitting, crawling or walking may occur at about twice the age of child without impairment. People with down syndrome also suffer from cognitive delays. People affected by down syndrome varies greatly, it can happen to anyone, although more common in pregnant mothers 35 years or older. the cause of down syndrome is due to having an extra chromosome, therefore it is a disorder that happens 99% randomly and only 1% genetically. Unfortunately there is no cure, treatment or prevention for down syndrome as of today, but scientists are continuing to research for a cure. People with Down Syndrome live healthy, active lives and can function in an everyday environment.
This means that babies with down syndrome have an extra chromosome, chromosome 47. Some symptoms of the disorder is physical features such as, flat facial profile, upward slant to eyes, small ears, protruding tongue, and your child will have low muscle tone. Other symptoms include, problems with hearing and vision, being cross eyed, having breathing problems, taking longer than normal to reach childhood milestones and take care of themselves, mild to moderate learning impairment, and growing at a slower rate.
Organ systems such as the brain, digestive tract, endocrine system, heart, eyes, ears, muscles, and bones can all be affected by Down syndrome. A patient with the brain affected by Down syndrome can have intellectual disabilities, delayed speech, and delayed motor skills. When the brain is affected they may also have Autistic behavior and even have Alzheimer disease. A person with Down syndrome may have malformed intestines or even other gastrointestinal diseases. They may become hypothyroid or diabetic as well. Cataracts, glaucoma, crossed eyes, or even hearing loss and chronic ear infections have been associated with Down syndrome. Short stature, predisposition to obesity, and abnormally loose joints are all physical abnormalities associated with Down
There are specific things to look for in people who have Down syndrome. According to WebMD, things to look for are, “Distinctive facial features, such as a flat face, small ears, slanting eyes, and a small mouth. A short neck and short arms and legs. Low muscle tone (hypotonia) and loose joints. Muscle tone usually improves by late childhood. Below-average intelligence.” (WebMD, 2005.) They do not all look alike. Some may have different shaped features such as, different eye shape, nose shape, head shape, or mouth. Many children with Down syndrome tend to look like their mother or
Prior to the birth of the child, an amniocentesis can be performed to determine certain aspects of the baby’s health. A sample of the amniotic fluid is gathered from around the baby. This test is commonly performed so that it can be discovered if the child has any type of disorder or abnormality. It is commonly used to see if the baby will be born with Down syndrome. This way the parents are prepared once the baby is born. A fine needle is inserted to extract the fluid with the use of an ultrasound. The amniocentesis is able to detect several hundred genetic diseases and chromosomal disorders. It can also determine any neural tube defects that may be present. It is not able to specify the severity of any of the illnesses that may show as being present.