Pulmonary Atresia

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).

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.

Birth defects are without a doubt one of the toughest things to live with. They can cause thousands of dollars of debt with medical bills, stress, and overall a rough life for not only the

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.

“There is no greater disability in society than the inability to see a person as more.” Robert M. Hensel says that, to look at a person with a disability and think nothing more of them is a disability for us. Birth defects are abnormalities mostly found in infants. There are many issues that come along with having a birth defect but some can be prevented. Analyzing all that is known in accordance to birth defects can help us look for more solutions in minimizing birth defect rates. For this reason education for pregnant women regarding birth defects needs to be more prevalent in the medical community.

Down Syndrome is also known as Trisomy 21, is a disorder that occurs when an extra chromosome is present on the 21st chromosome. There

Down syndrome is caused by having an extra chromosome on the twenty-first chromosomal pair. People with down syndrome have forty-seven pairs of chromosomes. There are three types of down syndrome and they are Trisomy 21, Translocation, and Mosaicism. Trisomy 21 is the most common type of down syndrome. It occurs when there are three rather than two, number 21 chromosomes present in every cell of the body. Trisomy 21 accounts for ninety-five percent of the down syndrome population. Translocation unlike Trisomy 21 only accounts for four percent of the down syndrome population. In this case, part of the twenty-first chromosome breaks off during cell divas and attaches itself to another chromosome, usually chromosome 14. Mosaicism is the rarest

Pulmonary valve stenosis is a heart problem some children are born with (congenital heart defect). This defect is a stiffening or narrowing (stenosis) of a one-way valve in the heart. It is the valve that allows blood to flow from the pumping chamber on the right side of the heart (right ventricle) into the blood vessel that carries blood to the lungs. If not enough blood is flowing through the valve, not enough oxygen will get into your child’s blood. The child’s heart will also be forced to work harder.

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

Congenital abnormalities have become the main cause of heart disease among children especially in developing countries including Palestine state. Congenital heart disease is the most frequent form of congenital anomaly in newborn infants, and accounts for more than a quarter of all serious congenital anomalies worldwide. Generally, an estimated incidence of eight cases of congenital heart disease per 1000 live births is internationally accepted as the best approximation. The causes of most congenital heart defects are not known. (Zaqout, Aslem, Oweida, Al Kahlout, Al Barqouni, and De Wolf, 2013)

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 (Trisomy of Chromosome 21) occurs when there is a defect during meiosis, typically after a mother’s egg cells have remained in suspension for a prolonged period of time (risk increases with age) or during translocation errors during early embryonic development. Individuals with Down Syndrome present physical findings of a low nasal bridge, hypotonia, lowered ears, and short stature. Patients with Down syndrome may present signs of Alzheimer’s disease around 40 years of age.

There are 23 pairs of chromosomes in a normal human cell. Trisomy 21 or Down syndrome occurs when there is a third copy of chromosome 21 and causes malformation in body and brain development. Giving birth to a child with down syndrome increases as the mother ages. The odds of having a child with trisomy 21 are 1 in 1000 for women under the age of 35. This increases to 1 in 200 for women 35 and older. Thus, while not completely avoidable, it is best to have children while the mother is still under 35 to allow the child to be less likely to be born with down syndrome.

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.

Down syndrome was named after John Langdon Down, who was the first person to discover Down syndrome. In the earlier years it was called Mongolism, which is no longer used because it is offensive to the Mongolians. James N. Parker and Philip M. Parker state “Down syndrome is a chromosomal disorder caused by an error in cell division that results in the presence of an additional third chromosome 21 or ‘trisomy 21’” (10). There are different types of Down Syndrome according to the National Down Syndrome Society (NDSS), there is Trisomy 21, Mosaicism, and Translocation (What is Down syndrome?). There is no way to prevent having a baby with Down syndrome although chances increase as the woman gets older. The NDSS says, “A 35-year-old woman has about a 1 in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40” (What is Down syndrome?). Although the risk is greater for older women, it is still possible to have a child with Down syndrome at a younger age.