Down Syndrome Genetics Abnormality Essay

1107 words - 4 pages

Down syndrome is found in one in every 691 babies in the United States! (Global Down Syndrome Para 12). The abnormality in physical and mental traits of this genetic disease has made it moderately difficult for those who are diagnosed to live. Their lifestyle and their parents are more complicated than a regular human being because of the extra attention towards health and education needed. But with extensive medical care and proper techniques families are able to get through the illness.
Living with Down syndrome can be lethal because of the major medical complications assorted with the disease. Most likely those associated with Down syndrome will suffer from health problems including leukemia, heart defects, hearing loss, Alzheimer's disease and many more. (Learn.Genetics Para 6) These and other difficult issues, risk the chance of a long life expectation. The disease not only affects those who are diagnosed but also those tending to them. They will struggle from the extensive amount of care, costly fundamentals and mental stability brought up from it.
Normal human beings have a total of 46 chromosomes, 23 from each parent. Unlike those with Down syndrome, who have 47 chromosomes, because of a fault during the cell division process. The error is called nondisjunction. Nondisjunction is when chromosomes fail to separate during the metaphase stage. Trisomy 21 is the most common type of Down syndrome named after the 21st chromosome, which is the source of the illness. When the chromosome fails to split in the egg (or sperm) and then join to create an embryo, all the cells in the infant carry 3 copies instead of two, of the 21st chromosome. An extra chromosome can cause a surplus or shortfall of proteins which can harm the body and be lethal for survival.
According to Learn.Genetics “In 90% of Trisomy 21 cases, the additional chromosome comes from the mother's egg” (Learn.Genetics Para 5) Women play a significant position towards the development of getting Down syndrome. Maternal age of a woman majorly reflects the likelihood to have a child with the illness. It is found that women over 35 have a higher risk for their children to have Down syndrome. (A.D.A.M Para 22) Though the genetic disease is mostly initiated by the eggs of females, there is no specific race or gender that the disease is found in.
Down syndrome is the least researched and sponsored genetic disease but is the most common in America. Recent studies have shown they’re able to silence the extra chromosome which halts the extra compounds to be produced. This could majorly affect those with the illness to enable them with less of the disorder and a better health. However, since there are millions of cells in the body with the third copy of the 21st chromosome, it will take years and years to silence all the cells, which could possibly prevent Down syndrome. (Medical News Today)
More medical study would greatly aid scientist, doctors and those with the syndrome to overcome it....

Find Another Essay On Down Syndrome Genetics Abnormality

Down Syndrome Essay

660 words - 3 pages Down Syndrome, a chromosome abnormality is present in all ethnicity, social economic classes, and gender. In, Down Syndrome is defined as a "congenital disorder by an extra chromosome on the chromosome 21 pair." Although there are many theories that have been forwarded for the cause of chromosome abnormalities, there is no known research for the cause of Down Syndrome. There are three main types of chromosome abnormalities in Down

Down Syndrome Essay

1175 words - 5 pages the people from Mongolia. During this time people didn't know the cause of Down Syndrome, in the early part of the twentieth century people thought many things could be the cause. In 1959 two scientists, Jacobs and Lejeune, working separately, found the cause to be trisomy 21.This trisomy involves genetics. All people have cells in their bodies, and these cells carry the individual set of traits that determine many things like characteristics

Cystic Hygrom

2052 words - 8 pages such as the absents or incomplete development of puberty, broad and flat chested, drooping eyelids, dry eyes, and short heights. Females with Turner syndrome can have a normal live as long as they are carefully monitored by a doctor (MedlinePlus). Cystic Hygroma can also be caused by Down syndrome. Down syndrome occurs when a chromosome have a partial or full extra copy of chromosome 21. This extra genetic material alters the development and

Angelman Syndrome: A Genetic Disease

1163 words - 5 pages the maternally inherited UBE3A allele (“Angelman Syndrome.” National). This basically means that Angelman Syndrome is usually caused by UBE3A, which is inherited from the mother, not working like it should. Although it is from the mom, it is not always passed down (“Angelman Syndrome.” Genetics). In fact, it is usually known to be a new appearance in a child (“Angelman Syndrome.” National). If Angelman Syndrome is in a case where it is passed

Down Syndrome Chromosome Twenty One

1214 words - 5 pages Down Syndrome Chromosome Twenty One Down syndrome affects one out of 700 children born in the United States. A chromosomal disorder associated with the twenty first chromosome pair, brings a lifetime of challenges to the affected person. Down syndrome is associated with intellectual disability, a characteristic facial appearance and reduced muscle tone during infancy as stated by Genetics Home Reference (2013). There are three different

Down syndrome

2634 words - 11 pages endocardial cushion defects, affects 40% of babies and should be screened for by echocardiography soon after birth as it may well be difficult to detect.* Gastrointestinal disorders: the most common congenital abnormality of the gastrointestinal tract associated with Down syndrome is duodenal atresia, although pyloric stenosis, Hirschsprung's disease and tracheo-oesophageal fistulae have all been reported.* Vision: Three percent of newborns with

Down Syndrome by Ali Oterrab, describes the definition of down syndrome, the causes and the symptoms.

684 words - 3 pages chromosome, the person will not display symptoms but the children may inherit Down syndrome.Mosaic Down syndrome results from a second type of chromosomal abnormality in which only some cells in the body have an extra chromosome.There is no cure for Down syndrome. But there are tests before the baby is born that can identify if the baby will have Down syndrome. The American College of Obstetricians and Gynecologists recommends that the test called triple

An Overview of the Rare Disease Known as Kabuki Syndrome

3246 words - 13 pages Kabuki Syndrome is caused by. The disorder usually occurs within families, providing evidence that it is hereditary. However, there are usually no irregularities in the genetics of someone infected. Also, there is a very minute percentage of those suffering from Kabuki Syndrome that have chromosomal abnormalities ("Kabuki," 2000). The syndrome shows up randomly. It is believed that the cause may be due in part to the absence of a diminutive

Work Cited 1.<Tab/> 2.<Tab/> 3.<Tab/> 4.<Tab/> 5.<Tab/>

787 words - 3 pages muscle tone, appear somewhat "floppy." The child or adult with Down syndrome is often short and has unusual looseness of the joints. Most children with Down syndrome will have some, but not all, of these features.There is no cure for Down syndrome, nor is there any prevention for the chromosomal accident that causes Down syndrome. However, recent studies suggest that some women who have had a baby with Down syndrome had an abnormality in how their

Down Syndrome

685 words - 3 pages develop behind those peers without this chromosomal abnormality (Arc). Early Intervention While nothing done before or during a pregnancy can cause Down syndrome a diagnosis can be available as early as pregnancy. An amniocentesis performed by a medical professional can easily identify the chromosomal abnormality or after birth with a simple blood test performed on the newborn. The earlier a diagnosis is made, the earlier parents can begin

Translocated Down Syndrome

1221 words - 5 pages stuff from chromosome 21 added onto the translocated chromosome (Mayo Clinic, 2014). Translocated is another form of Down syndrome, with the difference of it being passed along by genetics. There are two different types of symptoms: There are physical and intellectual symptoms. Some of the physical symptoms are a smaller neck, eyes are slanted upward, hands are wider than normal and both their hands and fingers are much shorter than the average

Similar Essays

Genetic Disorders And Down Syndrome Essay

1177 words - 5 pages trisomy G is one syndrome that has many characteristics. In 1866 “English doctor, John Langdon Down published a description of the condition” (Downs Syndrome Association). According to Genetics Home Reference, Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone in infancy. Down syndrome is caused by an extra copy of the 21st chromosome. Unlike Fragile

Maternal Age And Down Syndrome Essay

2551 words - 10 pages The Influence of Maternal Age on Down syndrome Children born to older parents are at greater risk for genetic abnormalities, such as Down syndrome. No one knows what causes the chromosomal abnormality that results in Down syndrome, a condition according to the National Association for Down syndrome, affects one in 800 to 1,000 babies in the United States. Any woman regardless of her culture, race and socio-economic status can have a baby with

Living With Down Syndrome Essay

2582 words - 10 pages There are many different types of children with a myriad of needs in our school system. Included within this group of students are those who are diagnosed with Down syndrome. There are more than 250,000 people living in the United States with a Down syndrome diagnosis (Genetics). Down syndrome is not a hidden disability rather it has physical attributes that can make the diagnosis obvious. Furthermore, individuals with Down syndrome and their

Chromosome Abnormality Essay

1377 words - 6 pages test. Prenatal screens only provide the parents a probability of abnormalities while diagnostic tests can provide almost 100% accuracy for whether or not there is an abnormality (What Is Down Syndrome). If parents choose not to get prenatal tests done, at birth, traits of Down syndrome can been seen physically. As studies show, today there are many syndromes caused from chromosome abnormality today that are easily determined but also some that