Down syndrome is a genetic disorder most commonly caused by extra copies of chromosome 21. It occurs randomly during cell division in fetal development. This paper will discuss general information on Down syndrome, which will include the discovery of syndrome, the types and causes, the risk factors. Furthermore, this paper will also discuss the sign and symptoms, diagnosis and treatment. General background
Down syndrome is a genetic disorder occurs in every individual regardless of gender, ethnicity and race. A British physician John Langdon Down discovered Down syndrome. He perceived Down syndrome a special kind of mental disability. As stated in Global Down syndrome (2015), in 1866, John Langdon Down named the disorder a Mongoloid because the facial features resembled Mongolian. In 1959, a French physician, Dr. Jerome Lejeune observed 47 chromosomes in the cell of an individual with Down syndrome and he concluded the result of Mongoloid is due to chromosomal abnormalities. As a result, in 1965, The World Health Organization accepted the name Down syndrome as the medical term for abnormal chromosome 21.
Every normal person inherits one copy of chromosome 21 from father and one copy of chromosome 21 from mother thus they have two copies of chromosome 21. But individuals with Down syndrome have 3 copies of chromosome 21. According to the Centers for Disease Control and Prevention (2014), one in every 700 babies is born with Down syndrome in the United States. Due to this
. 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 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).
Down syndrome is a birth defect caused by a genetic disorder that affects 350,000 people in the United States. It is caused by abnormalities in the genes and is not inherited, meaning that parents do not pass this onto their children. Genetics is the study of heredity or how certain traits are passed from parents to their children. Genes are the basic unit of heredity. Cells are the building blocks of your body and each one of us has more than 100 trillion cells. Our genes are located in chromosomes. Each cell in your body contains 46 chromosomes or 23 pairs. In a person with Down syndrome, there are 47 chromosomes. In 1956, a French researcher named Jerome Lejeune used a new powerful microscope to view human strands of DNA. DNA is what
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.
One of the most common genetic birth defects is Down syndrome which is a congenital disorder caused from a chromosome defect. It causes impairments and physical abnormalities. This is a condition where a child is born with an extra copy of their 21st chromosome. According to the National Down Syndrome Society (NDSS), 1 in 700 babies are born with DS. There is not an exact cause of how DS happens but there is an explanation as to what happens. When there is any case of reproduction, genes from both parents are passed to the children. Within these genes there are chromosomes and the child is supposed to receive 23 pairs of chromosomes or 46 total. Children with DS end up with 3 copies or an extra partial copy of chromosome 21 instead of 2
Down syndrome is caused by an extra chromosome of 21 in the children’s cell. Normally people have 46 chromosomes, however down syndrome contains 47 chromosomes. (Nhs.uk, 2016i)
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.
Down syndrome is a disease in which chromosome 21 has extra genetic material delaying the way a child develops mentally and physically.
Down syndrome is a genetic disorder and the most common autosomal chromosome abnormality in humans. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21. This additional genetic material alters of development and causes the characteristics associated with Down syndrome. The primary purposes of this article are to: establish the origin of the term Down syndrome; determine the possible causes of Down syndrome; Likelihood of having a child with Down syndrome; and treatments for humans diagnosed with Down syndrome.
There are over 400,000 individuals with Downs Syndrome: reminder that Down Syndrome is also called Trisomy 21, which is an extra x chromosome on the 22nd chromosome. Given the amount of individuals with Downs Syndrome, it is key that we acknowledge that statistic and foster ways in which we make these individuals lives, and overall quality of life better.
Down syndrome is a genetic disorder that affects a person’s facial features and intelligence. Down syndrome is also commonly known as Down’s syndrome, Trisomy 21, Trisomy G, 47,XX,+21, or 47,XY,+21. In 1866, English physician John Langdon Down is known as the “father” of Down syndrome. He was given that title for his publication of an accurate description of a person with Down syndrome, hence the reason why the disorder was named after him; although, this disorder was known as “Mongolism” until the 1970s. More information was learned about Down syndrome in 1959 when French physician Jérôme Lejeune identified that the disorder was caused by a chromosomal error. Then in 2000, a team of scientists was able to classify roughly 329 genes on chromosome 21, opening the door to many more advancements in the world of research for Down syndrome.
There are three forms of Down Syndrome. These three are Trisomy 21, Mosaicism, and Translocation. Trisomy 21 is where there is an extra copy of Chromosome 21 in every cell. Mosaicism is where only some of the child’s cells have an extra copy of Chromosome 21. Translocation is where only one of the 46 total chromosomes has an extra Chromosome 21 where part of Chromosome 21 gets attacked to another chromosome during the formation eggs and sperm, or early in the development of the fetus. Mosaicism and Translocation usually have less symptoms that Trisomy 21. Only translocation Down Syndrome can be inherited by an unaffected parent. Trisomy 21 is because of an abnormality in the reproductive cells, and mosaic Down Syndrome is just a random event that occurs early in fetal development. A baby receives 23 chromosomes from each parent, but with a Down Syndrome child, they receive extra chromosomes. When the Chromosome 21 is supposed to split into two chromosomes, the chromosome does not separate properly and they get three Chromosome 21. So as the brain and physical features develop, problems occur. Down Syndrome affects 1 in 800 newborns. Each year in the United States, 5,300 babies with Down Syndrome are born, and 250,000 people have this condition in
Down syndrome, also known as Trisomy 21, is a genetic disorder. It is caused by an abnormality in the number of chromosomes. DNA (deoxyribose nucleic acid) chromosomes are originate in the cell and are comprised of genes, which decide hereditary traits (Epstein pg.199). If a person has an extra chromosome on chromosome number 21 out of 23 they will have Down syndrome. The extra chromosome may delay the growth of a child’s physical and mental development which may lead to mental retardation. Normally, a person has 46 chromosomes, and will receive 23 pairs of chromosomes from the mother and 23 from the father totaling 46. But someone with Down syndrome will have 47. Although many theories have been developed, it is not known what actually
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.
In today’s society more women need to be aware of the disorder that is becoming more common every year. A study shows that there are about 6,000 diagnoses of Down Syndrome each year in the United States("National association for Down syndrome"). One in every 800 babies is born with Down Syndrome (Marsh). This is a rise from the previously reported statistic of 1 in every 733, as it was reported in 2010. Down Syndrome is a common chromosome disorder due to an extra chromosome number 21("PudMedhealth"). Down Syndrome causes mental retardation, a characteristic facial features, and multiple abnormalities such as short, stocky bodies with thick hands and feet. Down Syndrome can have many affects on the family, but there are ways of coping