Down syndrome
Down syndrome is a chromosomal disorder that is a result of when a person inherits all or part of an extra copy of chromosome 21. This can occur in a variety of ways, the causes of which are unknown. The most common chromosomal abnormality that produces Down syndrome is Trisomy 21, a defect in which an extra or third copy of the chromosome is present in every cell in the body. According to Parenting Magazine the number of Down syndrome births is relatively low for 18-yr-old mothers-1 in about 2100 births. In the later childbearing years the risk increases-1 in about100 for 40-yr-old women. Two other chromosomal abnormalities cause Down syndrome and occur in about 4-to-5% of all cases. The first, translocation, takes place when a child inherits a small, extra piece of the 21st chromosome is attached to
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Mosaic Down Syndrome results from a second type abnormality in which only some cells in the body have an extra chromosome. Many babies with Down syndrome have certain physical characteristics, which are common. These signs occur in up to 80% of all cases. Some of these traits are: the eyes have an upward and outward slant, there is a fold of the skin on the inner side of the eye, the face has a flat appearance, the head is smaller than average, the ears are smaller and lower set, the legs and arms are short in relation to the body, there is poor muscle tone and reflexes tend to be weaker. If a child has six to ten signs, the doctor can be almost certain that the child has Down syndrome. Many times parents wonder what their Down syndrome baby will be like. Mayo Clinic Family health book says, “Your baby will be like a baby. He/she will be 100% reliant on you
Though not all children with Down syndrome have the same features, some of the more common features are small head , short neck , flattened facial features, protruding tongue, unusually small ears, poor muscle tone, relatively short fingers and small hands and feet and short height just to name a few.
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
. 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
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).
Answer: 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. This is caused by an error in cell division called nondisjunction, which leaves a sperm or egg cell with an extra copy of chromosome 21 before or at conception. To the genes when the cell division occurs is when the extra chromosome goes to find a cell and attaches
There are three types of types of Down syndrome, with the most prevalent one being Trisomy 21 (www.ndss.org). The other two are Translocation
The genetic disorder of Trisomy 21, or Down syndrome is one that has often interested me. I understand that many children born with his genetic disorder can in fact live a full life, often with assistance. When answering the question of what exactly Down syndrome is, a good definition can be one describing this disorder as a genetic condition where a person has an extra 21st chromosome. The typical person has 46 chromosomes, therefore the person born with Down syndrome has 47. This extra chromosome brings with it some physical and cognitive characteristics that include mild to severe cognitive delay, low muscle tone, stunted growth, an easily identifiable upward slant to the eyes, generally a deep crease across the center of the palm and the appearance of a flat face. We have to keep in mind however, that each person with Down syndrome is an individual and might have some of these characteristics to different degrees, or possibly none at all.
Down Syndrome (otherwise called Trisomy 21) is the most widely recognized hereditary issues that causes a long lasting scholarly disability, formative postponements and different issues. Down Syndrome influences individuals of any age, races, and financial levels. It is a standout amongst the most as often as possible happening chromosomal variations from the norm, happening once in each 800 to 1000 live births. More than 350, 000 individuals in the United States alone have Down Syndrome. My objective for this paper is to discuss the three unique sorts of Down Syndrome and to discuss the contrasts between them.
Children with DS often grow slowly and as they become an adult they are shorter than normal. Their neck can have excess fat and skin which makes it look shorter than normal. Short, stocky arms and legs along with a wide space between the big toe and second toe is also a physical body symptom. As for face shapes and features they can have slanted eyes, nasal bridge that looks pushed in, small ears that look low on the head, irregularly shaped mouth and tongue. A child’s tongue can partly stick out and the teeth can come in late and in a different order than other children. Most children with DS have mild to moderate cognitive disabilities such as impulsive behavior, short attention span and slow learning capabilities. Some health issues that are often symptoms of DS are heart defects, hypothyroidism, eye conditions, hearing and dental problems, respiratory infections and depression. (What is Down Syndrome)
Down syndrome (also known as trisomy 21) is a disorder that makes you physically and mentally more challenged than everyone else but you are still able to grow develop and live a partially normal life. The major causes of Down syndrome are first just getting unlucky and having the 21st chromosome be irregular. But if you have a child when you are older than 35 you have a highly increased chance of getting down syndrome also if you have a sibling with Down syndrome or another kid with-it that can also increase the chance of getting down syndrome. Some symptoms of this disorder are, you can be physically less capable than others can and can have a hard time remembering things and can possibly not be able to achieve what seems to be easy things to do daily. However, most important, they only live to about 80. In addition, they can have a hard time reproducing but can still can reproduce.
Down syndrome (Trisomy of Chromosome 21) occurs when there is a defect during meiosis, typically after a mother’s egg cells have remained in suspension for a prolonged period of time (risk increases with age) or during translocation errors during early embryonic development. Individuals with Down Syndrome present physical findings of a low nasal bridge, hypotonia, lowered ears, and short stature. Patients with Down syndrome may present signs of Alzheimer’s disease around 40 years of age.
Down Syndrome is a genetic disorder that causes a range of physical disorders and developmental delays. It can be identified by some of the physical attributes the disorder comes with. These include a single deep crease across the palm of the hand, slightly flattened facial profile, and an upward slant to the eyes. To confirm the diagnoses doctors run a karyotype, which is a chromosomal analysis. They do this by extracting a blood sample and grouping chromosomes by size, number and shape.
At birth, an infant with Down syndrome displays hypotonia, low muscle tone. His or her head droops and appendages dangle when picked up. This is an indication of damage to the
Down syndrome is a disability where a person has more than two of the chromosome 21 (Routh 6). There are three different types of Down syndrome, Standard Trisomy 21, Translocation, and Mosaic Down syndrome. Standard trisomy is the most most common type of Down syndrome, and it appears in ninety-five percent of all Down syndrome cases. Translocation is when a patient has an extra piece broken off the original chromosome 21. It sticks onto another chromosome. It sometimes can be inherited. The final type is Mosaic, it has an extra chromosome 21 in some cells, but not all. With Mosaic, the harshness of some effects depend on the number of cells that have an extra chromosome 21 and where they are located (14). Overall about 4,000 people are affected by Down syndrome. Boys are more likely to be affected than girls(18), and the older the mother is when pregnant, the higher the risk(44).
A person that has Down syndrome may have some physical problems or disabilities. Some common physical problems are: short necks, poor muscle tone, a small head and an overall smaller body. Approximately one third of babies born with Down syndrome have heart defects, most of which are now