Mosaic Down Syndrome

Its termed trisomy 21 due to the fact it’s not an entire extra chromosome 21 that is responsible but rather a small segment of the long arm of this chromosome. Only two other triomies occurs with any significant frequency: trisomy 13 (Patau’s syndrome) and trisomy 18 (Edwards’ syndrome). Trisomy 21 is one of the most common human chromosomal aberrations occurring in about 0.5 percent of all conceptions and in one out of every seven hundred to eight hundred live birth.

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.

F. what specifically causes the disorder or disease? Describe what happens to which gene. Answer: The most common form of Down syndrome is known as Trisomy 21, a condition where individuals have 47 chromosomes in each cell instead of 46. This is caused by an error in cell division called nondisjunction, which leaves a sperm or egg cell with an extra copy of chromosome 21 before or at conception. To the genes when the cell division occurs is when the extra chromosome goes to find a cell and attaches

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

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.

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.

The etiology of Down syndrome is due to a genetic mutation within chromosome 21. There are three types of Down syndrome, which include Trisomy 21, Mosaic Down Syndrome, and Translocation Down Syndrome. Trisomy 21 occurs when there are three copies of chromosome 21 in each nucleus, instead of the usual two. This type of Down syndrome occurs 95% of the time. Mosaic Down Syndrome occurs 1% of the time and is characterized by some cells having three pairs of chromosome 21 and others having the normal two. This is caused by abnormal cell division after

Trisomy Down Syndrome happens when there are three 21 chromosomes as opposed to the normal two. This is a result of either the sperm or egg failing to separate causing a replication in every cell of the body. Another type called Robertsonian Translocation happens when part of chromosome 21 is translocated to another chromosome to the reproductive cells to the parent or early development of the child. This type accounts for about 4% of all cases of down syndrome. Mosaic is a form of down syndrome when the extra chromosome 21 is found only in some of the body's cells. “Mosaicism is the least common form of Down syndrome and accounts for only about 1% of all cases of Down syndrome.”

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

In Down syndrome, a person most often inherits two copies of chromosome 21 from the mother and one chromosome 21 from the father for a total of three chromosomes 21. If a baby inherits the chromosome with the extra genes from chromosome 21, then the child will have Down syndrome. About 2% to 4% of people with Down syndrome inherit additional genes from chromosome 21, but not in every cell of the body. These individuals may, for example, have inherited extra genes from chromosome 21 in their bone marrow causing an abnormal increase rate of blood cell production which is the cause of Leukemia Cancer. (Schainman 36)

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)

Down syndrome is a chromosomal condition that affects 1in every 700 kids. Down syndrome is when a child has and extra copy of chromosome 21. Down syndrome has many ways of telling if the child has down syndrome, like physical features. You can also tell if a child has down syndrome based on how they act. There are different ways of obtaining down syndrome. Kids with down syndrome are no different than kids that were born with the normal set of chromosomes, they just act a little different and need a little bit more help.

A chromosomal disorder is caused by an abundance or reduction of genes on the chromosomes. This type of disorder may also be caused by structural changes within these chromosomes; this is known as an aneuploidy (Porth, 2015). The most common chromosomal disorder is Down syndrome of which there are three types: complete trisomy 21, translocation, and mosaicism (Porth, 2015). Since its first identification in 1866, researchers have become more knowledgeable about the etiology of Down syndrome. When one studies etiology, pathogenesis, and clinical manifestations of Down syndrome, he or she will begin to understand multiple chromosomal disorders.