Genetic Disorder: Down Syndrome

Down syndrome is named after Dr. J.L. Down, who first discovered and studied the condition. It is part of a large number of disabilities known as intellectual disabilities. Down syndrome is present at birth and individuals are usually diagnosed during pregnancy or shortly after birth. There are three types of Down syndrome. The most common of these involves an extra number 21 chromosome, which gives the individual 47 instead of 46 total chromosomes. A chromosome breaking and then reattaching to another chromosome characterizes translocation, which is the second type of Down syndrome. The third type, nondisjunction occurs when a pair of chromosomes fail to separate properly during nuclear division. Individuals with this disability usually

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

. 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).

Cell division may happen by either mitosis or meiosis, depending on what type of cell is invovled. Mitosis is a process by which a cell divides to form two daughter cells. They each have the same exact number and kind of chromosomes as the parent cell. Meiosis occurs in the primary sex cells leading to the formation of viable egg and sperm cells. They reduce the number of chromosomes to half in each gamete so that when they are getting furtilized, the species chromosome number is kept even.

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 aetiology of Downs syndrome which means the cause of a specific disease (Mcferran, 2014). Suggests that when one of the chromosomes in reproduction do not separate properly this is when Down’s Syndrome is caused (Steven, 2005). This extra chromosome causes physical developmental defects this causes reduced muscle tone, a small mouth with a projecting tongue and eyes that slant downwards and upwards and causing the back of their head to be flat. Many babies born with Down's Syndrome are diagnosed with the condition after birth and are likely to have many physical defects for example they may have reduced muscle tone, eyes that slant upwards and outwards, a small mouth with a protruding tongue and a flat back of the head. (Hartley, 2015). Down Syndrome patients can also be afflicted with other conditions, including heart disease, Alzheimer’s disease, and leukemia (WHO, 2010). This could effect children and adults through out their life also effecting their physical and mental health.

When a baby is conceived, the baby receives 23 chromosomes from each parent, equaling 46 chromosomes. Sometimes during this creation a sperm or egg cell can causes that cell to contain 24 chromosomes. When this abnormal cell is included in the conception of a baby, that baby will have 47 chromosomes. The extra chromosome causes Down syndrome. After fertilization; cells start to divide rapidly. Depending on how the cell divides determines what type of Down syndrome the child has. Mosaic Down syndrome is obtained when a cell divides abnormally, creating a string of cells with the extra chromosome. A child with Mosaic Down syndrome has both cells: the normal 46 chromosomes, and the Down syndrome 47 chromosomes. It is believed that babies with Mosaic Down syndrome experience mild symptoms of the disorder.

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)

A child that is born with Down syndrome has a condition called trisomy 21. The term trisomy is described as the chromosomal error that results in a specific chromosome to have three copies. Therefore, in a case of Down syndrome, there are three copies of chromosome 21 in their DNA. A child with Down syndrome has a higher risk of hearing loss, heart abnormalities, and hypothyroidism.

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.

Down Syndrome is not commonly genetically passed down as opposed to what some may think, it happens by random. About 1% of the cases are heredity and 5% come from the father. Although, the risk of having a child diagnosed with down syndrome increase dramatically past the age of 35. “A 35-year-old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40.” (ndss)

Down syndrome is a genetic disorder that begins to develop at the cellular level after conception. All the cells in the human body contain a center, called a nucleus, in which genetic code of each human being is stored. This genetic material, known as genes, carries the codes responsible for all our inherited characteristics from the mother and the father. Genes are grouped along rod-like structures called chromosomes. The nucleus of each cell normally contains 23 pairs of chromosomes, half of which come from each parent. In Down syndrome, however, the cells usually contain not 46, but 47 chromosomes. The extra chromosome being a number 21. This excess genetic material, in the form of additional genes along the 21st chromosome, results in Down syndrome. Ninety-five percent of all cases of Down syndrome occur because there are three copies of the 21st chromosome; it is often referred to as "trisomy 21." Chromosomes are studied by examining blood or tissue cells. Individual chromosomes are identified, stained and numbered from largest to smallest. The visual display of the chromosomes is known as a “karyotype”. (Karyotype is the analysis of counting the chromosomes in each cell)

Typically, the nucleus of each cell stores forty-six chromosomes. Half of these chromosomes derive from each parent cell. However, in those with Down syndrome, the cells contain forty-seven chromosomes. Researchers’ knowledge of the etiology of Down syndrome has grown since it was first described in 1866 by John Langon Down (National Down Syndrome Society, 2012). According to the National Down Syndrome Association (2012), 95% of the Down syndrome cases are caused by a fault in cell division. Although it is clear that this disorder occurs because of an alteration during cell division, the cause as to why this occurs is unknown. However, the pathogenesis of this disorder is clear. The pathogenesis of this disorder begins with nondisjunction during meiosis, which is failure of the chromosomes to separate. Today, it is known that there