Congenital Birth Defects Essay

One type of abnormality is the XYY chromosomal male. The XYY male receives two Y chromosomes from his father rather than one. Approximately 1 in 1,000 newborn males in the general population has this genetic composition.11 Initial studies done in the 1960s found the frequency of XYY chromosomes to be about 20 times greater than normal XY chromosomes among inmates in maximum-security state hospitals” (Adler et al.,

day one they watch their beautiful healthy child grow up and live a normal life.

Premature birth has been linked to a vast array of lungs problems, the earlier the birth the greater risk of health complications(Davis R and Mychaliska G, 2013). A majority of the health problems will affect the infant for the rest of their life (Davis R and Mychaliska G, 2013). Infants born between the canalicular and the saccular period (week 25) have lung development that is unsuitable for gas exchange (Davis R and Mychaliska G, 2013). Two major complications that arise with undeveloped lungs is bronchopulmonary dysplasia, and pulmonary arterial hypertension (Mahgoub L. et al. 2017).

These causes specifically are completely biochemical, occurring within the chemical processes that develop the fetus. A single gene defect goes hand in hand with inheritance. All genes are inherited therefore so are bad genes; a single gene defect is that, a gene for a disease is inherited and manifests as a birth defect. Then, there’s chromosomal abnormalities. Chromosomes are those structures within our cells that contain genes. If an abnormality occurs (such as a replacement, of one piece of the gene for another) this will also results in a birth defect within the fetus.

Genetic disorder has many diagnostic and common names for example, DMD is also known as Duchenne muscular dystrophy or Becker and pseudohypertrophic muscular dystrophy. DMD is a genetic disease that occurs mostly in boys. According to the “Muscular Dystrophy Association DMD is inherited in an X-linked pattern, because the gene that can carry a DMD-causing mutation is on the X chromosome. The male host inherits an X chromosome from his mother and a Y chromosome from his father, which is what makes him male. The female host inherits two X chromosomes, one from each parent.” (MDM). “The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region, involving the steroid sulfatase gene cause X-linked ichthyosis; rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies (DMD or BMD); and the Xq27.3 unstable region, containing the (CGG) in repeat expansion in the FMR1 gene is associated with fragile X syndrome stated in the article, “A Family with Fragile X Syndrome, Duchenne Muscular Dystrophy and Ichthyosis Transmitted By An Asymptomatic Carrier”(Todorova, A)

Genetic disorders are present from birth, but they may not be visibly seen until a later age. Some mutations could be heritable, or from your parents genes. Some forms of cancer can be inherited form a parent. Although, in most cases, these mutations are new changes to the DNA. “All humans have the same basic set of genes”. This means that everyone has the probability that they could get a genetic disorder. The thing that makes us different is the

An example of a recessive x-linked disorder is fragile x-syndrome or FXS. Fragile x-syndrome affects a person’s behavior, learning, intellectual, as well as physical characteristics. Fragile x-syndrome is more likely to affect males over females and does not shorten their life expectancy. Males who have FXS can have ADD or ADHD, autism, aggression and other behavioral traits. Men can have physical alterations such as a long face, large ears, and flat feet. Women who have FXS can experience the same behavioral traits but are usually milder in comparison to men. The same is shown through the facial features for women (National Fragile X Foundation,

Autosomal dominant patterns is one way that a disorder can be passed down through members of the families, which essentially means that if one inherits the abnormal gene from one parent, then there is a greater chance that you are capable of obtaining this disease. Though the recessive and dominant disorder may both be caused by mutations in the genetic code on the X chromosomes, there’s a difference between both disorders. In the recessive disorder, females in particular are mostly likely to cause the disorder itself, because females contains mutations in one of the two copies of the genes in each cell. While the males would have to have a mutation within only one copy of the gene in each cell to sufficiently cause the disorder. However in the dominant disorder females would have to obtain a mutation that would have to be exposed in both copies of the gene to cause the disorder. While the males that has one altered copy of the gene in each cell can also cause the

Genetic disorders can also be hereditary and can be passed down from generation to generation. There are two types of genetic disorders, single gene and multigene. Single gene focuses specifically on one gene while multigene disorders affect multiple genes and there are more of them. Moreover, single gene disorders are far more numerous than generally assumed, and as a group, they are certainly not rare (Ropers, 2010). As stated by Hans-Hilger Roper, single gene disorders are more rare than many might think. The chances of being born with a certain genetic disorder could possibly range from 1 in 500 to 1 in 10 million. While these numbers for a single genetic disorder might not be significantly high, the tens of thousands diseases bundled together adds

Human genetics can play a major role in determining ones physical condition. One slight change in a genetic sequence can cause a disorder that can be life threating to the organism. Most of the genetic disorders are caused by recessive allele. In most cases this recessive allele is undetectable due to the disorder not being presented in the physical appearance. Hypercholesterolemia is an example of a human disorder controlled by a single gene. This human disorder causes high levels of cholesterol in an individual due to the absence of the low-density lipoproteins.

“Depending on the severity of the defect and what body part is affected, the expected lifespan of a person with a birth defect may or may not be affected” (Facts about Birth Defects). A variety of defects can do and affect different things, and different parts of the body. Depending on how bad it is, where or how it is affected, can determine the severity of the defect and how it can affect the child’s way of living. When caring for a child that has a birth defect, you need to take more precaution when caring for them than normal. It is known that they will have a harder life physically and maybe emotionally due to their defect. Telling the family may be hard as well, but being mentally and physically prepared for that child and that news is necessary. This news may be hard for the family to hear. Physically, a birth defect can affect the child because they might need help doing certain things. Mentally, they might not have the same thinking or learning process as compared to a child that doesn’t have a birth defect. Mentally, this could affect them in school as well. They could develop other mental illnesses such as anxiety or depression from being treated differently in school, if that case ever arises or from other factors from having a birth defect that can cause their life to be different or even

Usually when deletions include the centromere, the chromosome becomes handicapped and can no longer segregate

abnormality that is present at birth”. These can be inherited or they could be caused by

Cleft palate is a congenital birth defect. Treatment of cleft palate requires the interdisciplinary efforts of a Cleft Palate/Craniofacial team, which includes speech-language pathologists and dentists. Approximately fifty percent of individuals who suffer from cleft palate have been shown to have disorders in speech and/or language, with the potential to benefit from treatment (LeDuc, 2008).

People say that the benefits of human genetic engineering can include completely wiping out genetic defects that can cause terminal illnesses, or other life altering conditions. This information however, is completely untrue. Just because a disease doesn’t seem to be present in hundreds, thousands, or even a whole generation of humans, doesn’t mean that the genetic defect is gone; it can always come back. On the other hand, parents seem to turn towards the option of creating a “spare part” child. A spare part child will