Down 's Syndrome : A Common Chromosomal Disorder

. 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

Chapter 2 had a lot of new information that I was able to learn, a few things that I knew from prior knowledge is that humans take longer to become reproductively mature then any other mammal. I have known this for as long as I can remember with growing up on a farm and watching animals mature. I always thought it was crazy that around the age of 2 could be giving birth to a fully developed baby. Thinking about a two year old child giving birth to a baby would never be possible! Down syndrome is an intellectual disability that is caused by and extra set of chromosomes 21. I’m not sure where I learned this but I have been aware that they are different from you and me because their extra set chromosomes.

The woman who kept her pregnancy after her child had Down syndrome was grateful “She's an incredibly happy little girl. She lights up our lives ... I've been a person who thought academic achievement was really important, and it's been a beautiful learning experience to realize that value is about the soul of the person. Molly has really helped me to sit back and enjoy the moment rather than racing to get ahead.” And the lady who terminated her pregnancy stated that “I was bullied into going ahead with an abortion," says Ideson, 46, a GP surgery manager. "I only wish I could turn back the clock. I think of the daughter I never had every day. I'll always regret it” (Tarzo, 2016) The woman who kept her baby came to acceptance that her child was a blessing just like any other child. She didn’t feel the guilt that the women who terminated her daughter felt. If Susan listened to the doctor about terminating her pregnancy it wouldn’t be Christian view, because they don’t depend on science. She will end up feeling bad about not keeping her baby, especially if encounters others mothers who are proudly raising their Down syndrome

Suppose after trying to get pregnant for many years, it is found that the baby has Down syndrome, and the doctors suggest to abort the fetus. Although with a successful career a balancing it will need to be maintained. However, it is uncomfortable to accept those

Life defined by the Oxford Dictionary is “The condition or attribute of living or being alive; animate existence. Opposed to death or inanimate existence” (Life n., 2015). A person with a mental or physical disabilities by the definition above, despite their disabilities, still has life. There however is a heated conversation on the worth and quality of life of someone with disabilities specifically Down’s Syndrome. The discussion is on the subject of whether allowing the life of someone born with Downs Syndrome, and all the hardships that come with it, is a life worth starting. This paper will take a look at the Ethical Dilemma of aborting babies with Down Syndrome, the Christian worldview of the quality of life, and the options that can be

Marisna is a 39yo, G3 P2002, who is currently 21 weeks 0 days as dated by LMP using a due date of 04/25/17. This was consistent with her 1st ultrasound in your office that measured just slightly ahead with a due date of 04/18/17. She is AMA. She had a quad screen in your office that returned screen positive with an increased risk of Down syndrome of 1:100. This is close to what her age based risk would be. Open neural tube defect was screen negative. In reviewing her analytes, AFP was slightly elevated at 2.15 MoM and inhibin was borderline at 1.87 MoM. She was diagnosed with chronic HTN fairly early in her last pregnancy. She did not have preeclampsia with that pregnancy to her knowledge. The baby was quite small, as it weighed just over 4 lb at term. She was not on BP medication chronically, but coming into this pregnancy at 19 weeks her BP was elevated at 162/90 and she was started on labetalol. I cannot tell in the records if she had protein in her urine but she did have 2+ on her dip in our office today. She reports that she has collected a 24-hr urine last week, although we do not have those results. Because she entered care late, she is not on baby aspirin for the prevention of preeclampsia.

Down Syndrome has lots of complications as stated before individuals can have intrinsic heart problems, respiratory problems and listening to the issues, Alzheimer's disease, adolescence leukemia, and thyroid conditions. There is no cure for Down Syndrome, but the goals are to control the symptoms and the resulting medical conditions. As stated by Arthur Schoenstadt, MD “this includes regular checkups and screenings, medications, and surgery. Counseling and support groups are also aspects of treatment for those who need help in coping with the emotional and practical aspects of Down syndrome (Schoenstadt, 2013).

Down syndrome is a congential disorder arising from a chromosome defect, causing intellectual impairment and physical abnormalities including short stature and a broad facial profile. It arises from a defect involving chromosome 21, usually an extra copy ( trisomy - 21 ). In every cell in the human body there is a nucleus, where is genetic stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped rod-like structures called chromosomes. This additional genetic material alters the course of development and causes the characteristics associated with down syndrome. Many people misunderstand down syndrome as much as they misunderstand the people affected by the disorder even though not knowing the real causes,types, symptoms and anything that has to do with down syndrome.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. Trisomy 21 accounts for 95% of down syndrome cases, with 88% originating from nondisjunction of the mother’s egg cell and the remaining 5% of down syndrome cases are due to conditions called mosaicism and translocation which those are the three types of down

When such a condition is detected, or highly suspected, what then? According to Farrell et al., (2014) physicians are most concerned with the ethical issue of pregnancy termination. In the case of Down Syndrome, this is with good cause. A systemic review by Natoli, Ackerman, McDermott and Edwards (2012) found a weighted mean termination rate following a prenatal diagnosis of Down syndrome was 67%, with a range of 61% - 93%. The evidence they presented suggested that termination rates varied according to maternal age, race, and gestational age. (These variances alone open another ethical can of worms). But one can see, after only brief examination of this one genetic screen, why physicians, and society in general, should be concerned. There is no concensus regarding whether or not pregnancy termination is ethical in and of itself, let alone when one decides to terminate due to knowledge of specific genetic markers or

own syndrome, also known as Trisomy 21, is a lifelong genetic disorder which is caused by the production of an extra chromosome 21. Most people who have Down syndrome have similar physical features. The average symptoms include mental disabilities and delays in maturing. When this genetic condition is classified as severe, those affected by this disease suffer from serious health issues.

Down syndrome (DS) caused by trisomy 21 is the most common human aneuploidy and occurs approximately in 1 in 700 live births. Individuals diagnosed with DS display a wide range of clinical phenotypes including cognitive impairment, mental retardation, craniofacial abnormalities as well as increased risks for congenital heart defects, gastrointestinal tract abnormalities including Hirshsprung’s disease, with the presence or absence and severity of these features varying amongst the individuals. Proper formation of the craniofacial skeleton is important for the normal development of the brain, sensory organs and functioning of the digestive and respiratory tracts and is derived from neural crest cells.

Looking at disability as a social determinant of health one is able to explore the relationship it has with health status for individuals. Defining a disability many think it to be medical only when there are other factors such as mental and physical that contribute (Mikkonen & Raphael, 2010). Considering the effects on health status with disability one needs to understand the limitations of not having access to adequate health care, being limited in their jobs which results in not being able to afford medication and assistive devices and role of the family/friend/caregivers and how their support and time can affect an individual with a disability health’s status. Beginning with the first point, individuals with disabilities have limitations

Down syndrome is characterized as a chronic genetic chromosomal disorder which alters one’s cognitive growth, intellectual development, and physical characteristics. This extremely widespread condition is most prominently existent in human beings whose genetic makeup is composed of an additional copy of chromosome 21. Additionally, these human beings are known for acquiring 47 chromosomes rather than the conventional 46 chromosomes. This chromosomal abnormality is extremely common, yet highly spontaneous. To illustrate, the prevalence of Down Syndrome is exhibited as around

It's hard to believe a random error in cell division known as nondisjunction can be the reason for so many birth defects. This one mistake is the cause of 1 in 691 babies being born with what is known as Down Syndrome. In every cell in the human body, there is a nucleus. Typically there are twenty three chromosomes in each nucleus. Down Syndrome occurs when there is extra full or partial copy of chromosome 21. Down Syndrome is a chromosomal condition that causes low muscle tone, small stature, and a single deep crease across the center of the palm. Although, each person with Down Syndrome is a unique individual and may have these characteristics to different degrees.

Chromosomes are the units of genetic information that exist within every cell of the body. Twenty-three distinctive pairs, or 46 total chromosomes, are located within the nucleus (central structure) of each cell. When a baby is conceived by the combining of one sperm cell with one egg cell, the baby receives 23 chromosomes from each parent, for a total of 46 chromosomes. Sometimes, an accident in the production of a sperm or egg cell causes that cell to contain 24 chromosomes. This event is referred to as nondisjunction. When this defective cell is involved in the conception of a baby, that baby will have a total of 47 chromosomes. The extra chromosome in Down syndrome is labeled number 21. For this reason, the existence of three such chromosomes