Specific Purpose: To inform my audience about two different ways children can be born with Down Syndrome.
Central Idea: Today, I would like to talk about two different ways a child can be born with Down Syndrome, and why the difference between the two is important.
Introduction:
I. Matthew’s birth was the same as many of our own.
A. But there was something different about him from the very start. B. That difference is that Matthew was born with a specific kind of Down Syndrome.
II. Having a cousin with Down Syndrome sparked my interest, and after researching I have learned that the two most common ways people are born with Down Syndrome differ in one important way.
III. Today, I’d like to explain what Down Syndrome is, the two
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We get half our genetic information from our mother, and half from our father.
1. A normal child has 23 pairs of chromosomes
2. But a child with Down Syndrome has 3 copies of the 21st chromosome (trisomy 21)
B. Down Syndrome is the most common genetic disorder- 1 in every 691 children born in the U.S. has it, according to the National Down Syndrome Society
C. Down Syndrome symptoms: mild to moderate mental disability, stunted growth, low muscle tone, and thyroid issues, higher risk for Alzheimer’s and heart failure. (Genetic Disorders Sourcebook, Third Edition)
(Transition: Now that you know what Down Syndrome is, let’s look at the 2 most common ways Trisomy 21 occurs.)
II. There is more than one way to acquire the extra 21st chromosome that causes Down Syndrome (we’ll talk about the 2 most common)
A. Most people born with Down Syndrome have it because of a faulty cell division called a nondisjunction.
1. Nondisjunction happens when a pair of 21 chromosomes fail to separate, resulting in the three 21 chromosomes.
2. The total number of chromosomes= 47
B. According to the Genetic Disorders Sourcebook, Third Edition, 3-4% of Children with Downs Syndrome get it as the result of a gene
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A gene translocation occurs when part of chromosome 21 breaks off during cell division and attaches to another chromosome, according to the NDSS. (slide 3)
2. The because 2 chromosomes are connected, the total number of chromosomes remains 46, but the child still has an extra 21st chromosome
3. The other chromosome involved in the translocation can be a few different chromosomes. (For Matthew, it is the 22nd chromosome).
(Transition: Now that you know the difference between translocation and nondisjunction, you may be wondering why it matters. Let me tell you.)
III. There is one important difference between gene translocations and disjunctions.
A. It is not the child itself- Matthew is indistinguishable from other kids with Down Syndrome.
B. The difference is that according to the NDSS, in 1/3rd of the cases of translocations (including Matthew’s), there is a hereditary component.
1. Matthew’s mother was a carrier of the translocation. (slide 3)
a. Her 21st and 22nd chromosomes are attached, so she only technically has 45 chromosomes.
b. She doesn’t have Downs because there are still only 2 copies of the 21st.
c. Because she is a carrier, other people in my family are likely to be carriers as
Down syndrome is named after Dr. J.L. Down, who first discovered and studied the condition. It is part of a large number of disabilities known as intellectual disabilities. Down syndrome is present at birth and individuals are usually diagnosed during pregnancy or shortly after birth. There are three types of Down syndrome. The most common of these involves an extra number 21 chromosome, which gives the individual 47 instead of 46 total chromosomes. A chromosome breaking and then reattaching to another chromosome characterizes translocation, which is the second type of Down syndrome. The third type, nondisjunction occurs when a pair of chromosomes fail to separate properly during nuclear division. Individuals with this disability usually
Did you know that close to 6,000 babies are born with Down syndrome every year in the United States? The most common type of chromosomal condition is Down syndrome and there are a few different types of this condition, along with, several different traits that are displayed with this condition. I have always been interested in the topic of Down syndrome and thought it was a great idea to study more about it for my speech. First, I will tell you about what Down syndrome is and who discovered it. Second, I will talk to you about some symptoms and characteristics of this chromosome disorder. Third, I will discuss the 3 different types of this condition, and lastly, how they diagnose Down syndrome prenatally.
There are many risks associated with parental-age; including the increased likelihood of being pregnant with multiples, high blood pressure, hypertension and gestational diabetes. Consequently, these risks can cause the premature delivery of a baby with a low-birth weight (The American College of Obstetricians and Gynaecologists 2015; March of Dimes 2017; Evidence Based Birth 2017). Women aged 40 are also susceptible to have a 51% chance of a spontaneous miscarriage and are two and-a-half times as likely to have a stillborn baby (Birth Injury Justice.org 2017); compared to a 22 year old with 8.7% (Birth Injury Justice.org 2017; Evidence Based Birth 2017). The miscarriage rates are higher in older women as they occur within the half of the first trimester due to genetic problems including Down syndrome; as 1 in 53 at the age of 40 have a baby with a genetic disorder, compared to 1 in 1064 at 25 (Evidence Based Birth 2017).
Answer: out of 46 chromosomes, 44 are autosomal. The remaining 2 chromosomes are sex chromosomes. Chromosomal disorder Down syndrome/ trisomy 21: having an extra chromosome for the 21st pair causes Down syndrome. This here would be sex linked because your sex chromosomes are the ones who determine if you are to have the disorder. Also because your parents are the ones who are passing their chromosomes and those sex chromosomes are what makes you.
This will result in one gamete receiving extra chromosomes, one not receiving a chromosome, and two gametes with 23 chromosomes each.
Case Study Question 1 Trisomy 21 is an aneuploidy congenital disorder. This means that the cell had an abnormal number of chromosomes. Normally, humans have 46 chromosomes,
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
Chromosomes are located in the nucleus of all human body cells. There are a total of 23 pairs (46 total) of chromosomes in the human body. Each individual chromosome has a homologous pair, which is an exact copy, of that chromosome. All chromosomes vary in size and range. Typically, the first row that is show in a karyotype are the largest chromosomes and they get increasingly smaller (Reece). There are about 198 million pairs of chromosome 3 within a body (Chromosomes). Each chromosome has a variety of genes located in different positions throughout. Genes are what get passed down from parent to offspring (Reece). Chromosome 3 has about 1,000-1,100 genes located sporadically across the chromosome. A few examples of genes on chromosome 3 could
1 in 150 babies is born with a chromosomal condition, otherwise known as a genetic condition because chromosomes hold genes that instruct the body on how to grow and function. These chromosomal conditions can be caused by an alteration in the number of chromosomes an embryo has. Each person has 23 pairs making 46 individual chromosomes, too many or too few chromosomes can result in abnormality. A condition resulting from this kind of alteration is Down syndrome, in which a pair of chromosomes contains one extra chromosome. Down syndrome, along with other conditions resulting from too many or too little chromosomes can result in mental retardation and physical defects. Chromosomal conditions can also be caused by a change in the structure of a chromosome. Parts of the chromosome can be missing, repeated, or rearranged in a way that can cause abnormality. An example of this condition is Fragile X syndrome, in which one segment of a gene is repeated 200 times as opposed to 5 to 40 times. These alterations of chromosomes can be inherited from the
In this experiment cells with visible chromosomes were observed in order to find the percent of crossing over during meiosis. Many chromosomes maintain a 4:4 gene ratio but some do truly cross over. The chromosomes that showed a 4:4 ratio as well as the chromosomes that were crossed over were counted and entered into a data table for 2 plates. The map unit and percent of crossover were found using the data collected and also recorded in the chart.
The human species for example carry 23 pairs. Males carry both X and Y chromosomes while females only carry X chromosomes. In humans our chromosomes undergo meiosis; the cells divide two times forming four daughter cells. Meiosis has two stages, first the homologous chromosomes pair up and exchange corresponding segments then forming two daughter cells. Next the sister chromatids of each chromosome separate. Because chromosomes come from two different parents there are many different versions of many of the genes. In certain cases humans can have abnormal number of chromosomes which can cause problems. This can be blamed on the failure of proper
Mosaic Trisomy 21 happens when an egg or sperm come in with an extra copy of chromosome 21, then,
Like autism and Asperger’s, Down syndrome is also a developmental disorder that delays certain advances in growth, and is present within the body from conception. One in every seven hundred babies are born with Down syndrome (What is Down Syndrome?). There are three types of DS: Trisomy 21 (nondisjunction), Translocation, and Mosaicism. Trisomy 21 is developed when there are three twenty-first chromosomes instead of the regular two. This is the most common type of DS which consists of ninety-five percent of all diagnosed children. Translocation is the second most diagnosed with four percent of all cases. This disability is created when there are thirty-six chromosomes, but a complete or partial twenty-first chromosome, most commonly attaching to the fourteenth chromosome, and forms the Down syndrome trait. Mosaicism is a less noticeable type of Down syndrome which is developed when there is a combination of cells, some containing
The extra chromosome in trisomy 21 results in overexpression of the genes. Although overexpression is not noticeable in many genes, the genes that are involved in Down syndrome seem to be quite different. In fact, not even all of the genes in the 21st chromosome need to be tripled to result in Down syndrome. There are approximately 250 genes in the 21st chromosome, and only 20 to 50 genes need to be involved in the nondisjunction to cause the effects of trisomy 21. The small area within the cell where genes need to be to cause Down syndrome is called the Critical Region. (3).
Down syndrome affects many people including Lauren Potter, and has a lot of effects on people who has this disease. She was born on May 10, 1990 (“Lauren Potter Actress”), in Inland Empire (“Lauren Potter”).