Elena Anderson: (in a frightened voice) But…. But….. What is Down Syndrome? Jane O'Brien: (In a comforting voice) First, calm down, Miss Anderson. I know it’s hard for you to hear your baby has Down syndrome but please take a deep breath, I will explain everything you need to know. First of all, Down Syndrome is a genetic disorder that involves birth defects, intellectual disabilities, and characteristic facial features. Additionally, it often involves heart defects, visual and hearing impairments, and other health problems. if you thinking what is genetic disorder is. Genetic disorder is altered or faulty gene or set of genes. The four broad groups of genetic disorders are single gene disorders, chromosome abnormalities, mitochondrial …show more content…
What is a chromosomes made up of? what type of Chromosomes is this sex- linked or autosomal?
Jane O'Brien: Chromosomes are tiny, threadlike structures inside most cells of every organism, or living thing. Chromosomes carry information about the organism in units called genes. Each chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure.Down Syndrome is an autosomal genetic disorder.. Down Syndrome Is caused by having an extra copy of Chromosome 21, so instead of 2 copies, you have 3. This is an autosomal disorder and is not sex-linked. This usually occurs due to abnormal cell division when they egg and the sperm meet during fertilization.
Elena Anderson: (Crying) Did I cause my Child to be born with Down
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Although there is been a rare chance (pause) for people with Down Syndrome to become a parents. Men with Down Syndrome are considered as sterile although the causes of sterile are not known in detail yet. sterile meaning us a male with Down Syndrome not be able to produce children or young.There are confirmed cases that male with Down Syndrome became fathers. Many scientist have working on to find out why can’t most of the people with Down Syndrome can’t became parents. The percentage of female become parent is 25% and foe the male is 5% of a change that they can be parents. There is a 50% chance that they will have a child with Down Syndrome.
Elena Anderson: (sadly) so, how long my child can live?
Jane O'Brien: We can’t tell the exact age your child going to live, some people with Down Syndrome live up to age 50s, 60s and even 70s. As medical remains, the life span of many individuals will be even longer. It is true that people with Down Syndrome on average don't live long as other normal people. However, we are working on, to give better treatment to cure Down syndrome.
Elena Anderson: Thank you doctor for explaining what Down Syndrome is and also helped me to understand about this disease. I want to ask you more questions about Down Syndrome, but I think this is all I can take for
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).
Down Syndrome is a chromosomal condition related to chromosome 21. It affects 1 in 800 to 1 in 1000 born infants. People who have Down Syndrome have learning difficulties, mental retardation, a different facial appearance, and poor muscle tone (hypotonia) in infancy.
Down syndrome is a birth defect caused by a genetic disorder that affects 350,000 people in the United States. It is caused by abnormalities in the genes and is not inherited, meaning that parents do not pass this onto their children. Genetics is the study of heredity or how certain traits are passed from parents to their children. Genes are the basic unit of heredity. Cells are the building blocks of your body and each one of us has more than 100 trillion cells. Our genes are located in chromosomes. Each cell in your body contains 46 chromosomes or 23 pairs. In a person with Down syndrome, there are 47 chromosomes. In 1956, a French researcher named Jerome Lejeune used a new powerful microscope to view human strands of DNA. DNA is what
However, different levels of cognitive delays are experienced by people with Down syndrome (Tocci, 2000). Technological advances in the field of medicine have allowed Down syndrome patients to live longer lives. For instance, children suffering from the illness in 1910 usually died after they turned none. However, with the advent of antibiotics, these children can now live to the age of 19 or 20. Further advances in technology have allowed almost 80% of Down syndrome patients to live past their 60th birthday due to corrective heart surgeries etc. An increasing number of Americans are becoming aware of people who suffer from the illness, which has led to an increase in tolerance and acceptance of this condition (Girod,
Down Syndrome is not commonly genetically passed down as opposed to what some may think, it happens by random. About 1% of the cases are heredity and 5% come from the father. Although, the risk of having a child diagnosed with down syndrome increase dramatically past the age of 35. “A 35-year-old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40.” (ndss)
Symptoms of down syndrome are the following Flat facial features, Small head, Short neck, Protruding tongue, Upward slanting eyes, that is unusual for the child's ethnic group, Unusually shaped or small ears, Poor muscle tone. Broad, short hands with a single crease in the palm, Relatively short fingers and small hands and feet, Excessive flexibility. Tiny white spots on the colored part or the iris of the eye called Brushfield spots, Short height. Infants and children with down syndrome may be average size at birth , but typically they grow slower and remain shorter than other children the same age. In general, developmental milestones, such as sitting, crawling or walking may occur at about twice the age of child without impairment. People with down syndrome also suffer from cognitive delays. People affected by down syndrome varies greatly, it can happen to anyone, although more common in pregnant mothers 35 years or older. the cause of down syndrome is due to having an extra chromosome, therefore it is a disorder that happens 99% randomly and only 1% genetically. Unfortunately there is no cure, treatment or prevention for down syndrome as of today, but scientists are continuing to research for a cure. People with Down Syndrome live healthy, active lives and can function in an everyday environment.
One of the main reasons for the increase in the number individuals with Down Syndrome is that women are more career oriented and are starting families later in life. Women of 40 years of age have a 16 percent more chance of having a baby with Down syndrome as compared to a woman of age 25. (Web. Down's Syndrome cases soar as women delay starting a family, 2009).
Down Syndrome affects many people, even those who don’t have it. Down syndrome is also called Trisomy 21. The term Down syndrome did not become the accepted term until the early 1970’s (“History of NADS”). Down syndrome is the most common genetic condition, almost 400,000 Americans have Down syndrome (“What Is Down Syndrome?”). When the 21st chromosome has an extra copy, full or partial, down syndrome will occur. With the extra genetic material it messes with the development physically and mentally. It also creates certain features connected with Down Syndrome. Some of the well known features are low muscle tone, small stature, upward slant to the eyes, and a single deep crease across the center of the palm (“What Is Down Syndrome?”). These features and their extent can vary from person to person, some may not even have any at all. One in every 691 babies born in the United States has Down syndrome, about 6,000 babies are born with Down syndrome each year in the United States (“What Is Down Syndrome?”). Just like the physical features the medical problems associated with Down syndrome vary from person to person, some may need a lot while others may need little to none. The health problem can be treated with the many resources available to help the people with Down syndrome and their families.
Down syndrome is a congenital disorder arising from a chromosome defect, the chromosome causing the problems is Chromosome 21. This disorder affects about 1 in 700 births in the United States. Currently there are about 400,000 Americans that have Down syndrome, with approximately 6,000 babies are born with Down syndrome each year. The disorder forms during fertilization or soon after fertilization. Fertilization occurs when the sperm binds to zona pellucida, then the sperm undergoes acrosome reaction which will lyses a hole in zona pellucida, and then the sperm and egg membrane fuse. Once the membranes fuse, the sperms genetic material gets released and gets combined with the egg’s chromosomes, thus resulting in a 46 chromosome fertilized egg.
In conclusion, down syndrome is a very serious condition. It has its rough patches along the way but most of the down syndrome patients live a very active life. Today, down syndrome patients are going to school, in sporting activities and many are getting into college now. Many people look down on down syndrome and don’t really stop to think what they are taking for granted. Most down syndrome patients are very appreciative about the little things and many people should follow in their
It’s symtoms include physical growth impedement, facial and body abnormality, and intellectual blockage. Down syndrome would be considered a common disorder in humans. It is estimated to have 1000 babies born each year with down syndrome due to genetic errors. Down Syndrome was first described by British doctor John Langdon Down in 1866; and the cause was discovered by French researcher Jean Esquirol in 1959, which was the extra chromosome 21.
Following several technical and medical advances and breakthroughs in the twentieth century, in 1959 French physician Jerome Lejeune identified Down Syndrome as a chromosomal abnormality. It was noted that there was 47 chromosomes in the cell of an afflicted person versus the normal 46. It was later determined that there was a third chromosome 21, called trisomy-21 (figure 1). Down Syndrome occurs in about 1 in every 800 to 1000 births and has affected more than 350,000 lives in the US alone It is caused by the extra chromosome 21 when an embryo has three copies of chromosome 21. Ninety-five percent of the time this is caused by disjunction during cell division. Due to younger women’s higher fertility rate, 80% of Down Syndrome babies are born to women under age 35. However, the chances of having a Down Syndrome baby increases with age of the parents.2 The phenotypes, or symptoms, of a Down Syndrome face are as follows: low muscle tone (weak muscle structure), small nose, flat face, slanted eyes (upward) and abnormally shaped ears (figure 2)
We all love amazing smiles and infectious eyes and hugs. Down syndrome occurs in people of all races and economic levels. Who are we to judge when we all bleed the same blood. Down syndrome is only a part of them and not how they are defined. No one is greater than another no matter what the situation. In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21.
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's Syndrome, it is one of the most frequently occurring chromosomal abnormalities found in humans effecting people of all ages, races and economic levels. It is a chromosomal anomaly in cell development that results in a person being born with forty-seven chromosomes instead of the normal forty-six chromosomes. People with Down syndrome may have mild to severe learning disabilities and physical symptoms, which include a small skull, extra folds of skin under the eyes, and a protruding tongue.