Down syndrome is a genetic disorder that numerous individuals around the world suffer from; it is an intellectual disability that is caused by having one too many chromosome 21 copies, trisomy 21. The average person has two copies of chromosome 21 in each cell, whereas, an individual with Down syndrome has an extra copy of chromosome 21. This happens when either the sperm or egg cell undergoes atypical cell division during development. In the United States, there are approximately 400,000 individuals who have been diagnosed with Down syndrome, according to the last census in 2012 (National Down Syndrome Society).
Elena Anderson: (in a frightened voice) But…. But….. What is Down Syndrome? Jane O'Brien: (In a comforting voice) First, calm down, Miss Anderson. I know it’s hard for you to hear your baby has Down syndrome but please take a deep breath, I will explain everything you need to know. First of all, Down Syndrome is a genetic disorder that involves birth defects, intellectual disabilities, and characteristic facial features. Additionally, it often involves heart defects, visual and hearing impairments, and other health problems. if you thinking what is genetic disorder is. Genetic disorder is altered or faulty gene or set of genes. The four broad groups of genetic disorders are single gene disorders, chromosome abnormalities, mitochondrial
the disorder in her pedigree. There are however, three different kinds of Down Syndrome. 95% of Down Syndrome babies have Trisomy 21. This is the presence of extra genetic material on the 21st pair of chromosomes. Around 4% have what is called Translocation. This is where the extra chromosome 21 decided to break away and attach itself to another chromosome. The last 1% is made up of those
Introduction Did you know that close to 6,000 babies are born with Down syndrome every year in the United States? The most common type of chromosomal condition is Down syndrome and there are a few different types of this condition, along with, several different traits that are displayed with this condition. I have always been interested in the topic of Down syndrome and thought it was a great idea to study more about it for my speech. First, I will tell you about what Down syndrome is and who discovered it. Second, I will talk to you about some symptoms and characteristics of this chromosome disorder. Third, I will discuss the 3 different types of this condition, and lastly, how they diagnose Down syndrome prenatally.
Down syndrome is a genetic condition not an illness or disease. Us humans are made up of millions of cells with 46 chromosomes in each cell, Down syndrome occurs when you have an extra chromosome 21 this is why this condition is also known as Trisomy 21. Down syndrome is not specific to any race or religion, Down syndrome can occur to anybody although the amount of people in Australia with Down syndrome is significantly lower to other Countries around the world.
Down Syndrome, also known as trisomy 21, is a genetic disorder in which a baby is born with an extra chromosome. A baby is usually identified at birth through observation of a set of common physical characteristics. They include having slanted eyes, a pushed in face, and “Brushfield spots” [white/gray spots that appear in the iris of people with down syndrome]. In the 1930’s down syndrome was not treated very well, however many changes in the medical field has led to a better treatment of those who have this illness.
. 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
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.
There are three types of types of Down syndrome, with the most prevalent one being Trisomy 21 (www.ndss.org). The other two are Translocation
Down syndrome is a disorder that occurs when an individual has an extra copy of chromosome 21. This can result in learning disabilities and physical abnormities. People with Down syndrome usually have similar trait characteristics; upward slant to the eyes, small stature, low muscle tone, and a deep crease in the center of the palm. It is easy to recognize people with Down syndrome because it is written on their face. This can make people easily to assume that people with Down syndrome are different than us, because they look different. Although Kellyn has Down syndrome, it does not
Common names~ Trisomy 21 D.S. (down syndrome) Trisomy 21 stands for a genetic disorder caused by the presence off all or part of a third copy of a chromosome.
Downs syndrome Downs syndrome is common name for the condition known as triosomy 21. Here the triosomy indicates babies have 3 copies of a certain gene, instead of the usual two.
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.
Down Syndrome is a genetic disorder that occurs when a persons 46 chromosomes abnormally divides into 47 chromosomes, creating a full or partial 3rd copy of the chromosome 21. Symptoms of down syndrome are the following Flat facial features, Small head, Short neck, Protruding tongue, Upward slanting eyes, that is
Do you feel like your child is having trouble developing? Is your child having trouble learning to speak, read, or walk? If so, you may want to get a screening test and a diagnostic test to see if your child has down syndrome. Down syndrome is a disease in which