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The Pros And Cons Of Edwards Syndrome

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Each chromosome in the DNA strand has a job or task that helps the body function, for chromosome 18 its job is to make proteins. When the chromosome 18 has three copies instead of two, then Edwards syndrome is formed. Edwards syndrome or trisomy 18 is the second most common trisomy disease with trisomy 21 being the most common. In every 5,000 babies born 1 will be born with Edwards syndrome. More than 20 to 30% of the infants that make it to full term will die within the first week to month. Of the percentage effected, girls are at a greater risk of being born with the syndrome than boys making up 80% of the effected. Similar to down syndrome, people born with Edwards syndrome are born with an extra chromosome 18 in the DNA strand that disrupts …show more content…

The CVS is conducted within the first 11 to 13 weeks of pregnancy, in this procedure a sample of cells is taken from the placenta and tested for genetic defects. Amniocentesis is only performed in women over 35 and is done 15 to 20 weeks into pregnancy. It consists of 20 mL of amniotic fluid getting extracted from the womb because this fluid has cells shed from the baby and is tested for different conditions. In some cases, the mother uterus is larger because the presence of extra amniotic fluid and at birth the placenta is small. For some, Edwards syndrome is only detected after the infant is born.
Infants born with Edwards syndrome show immediate signs of a disorder at birth with physical abnormalities. For example, infants born with Edwards syndrome have curved finger print patterns and a short breast bone that is visibly on x rays. The best way for doctors to confirm a case of Edwards syndrome is by karyotyping. This requires the baby’s blood to be drawn and have the chromosomes examined under a microscope. The use of stains allows each individual chromosome to be identified with chromosome 18 having three

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Later it was discovered that it was the result of an extra copy of chromosome 21. The nondisjunction that results in an extra copy of chromosome 21 occurs during anaphase I in meiosis I. The genetic mutation is trisomy 21 (3 copies of chromosome 21). The characteristic phenotypic occurrences that are distinct to the disorder: poor muscle tone, stout neck, flat face, small head, mouth, and ears, eyes slanting upwardly, Brushfield spots, and stout fingers and

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Dating Ultrasound The first scan an expectant mother will have will usually be during the 8 – 14 weeks mark. This initial scan is often referred to as the dating ultrasound. The reason for this is because it is during this scan that the sonographer will estimate the baby’s estimated date of delivery or due date based on the measurements of the baby. The dating ultrasound can also include a nuchal translucency test, which is one of the components of the Down syndrome screening procedure.

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Type 1, also known as NS1 and Male Turner syndrome, individuals are affected with most characteristics above. One added effect is the low number of blood platelets, which means blood clotting is very uncommon in these individuals. NS2 is closely related to NS1, except for the inheritance pattern. The last type of the condition is neurofibromatosis-Noonan syndrome, but it is really just an overlap of neurofibromatosis and NS1, however, it is only a chance occurrence, because "these conditions have two distinct gene locations, with no apparent overlap" (Gale

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Q. how is this disorder diagnosed & tested? A. its really self-diagnosed you don’t need to be a dr. to know if you have the disorder all you got to do is Look down at your hands a feet and check if you have an extra thumb, pinky or big/small toe. As for how its tests there are x-rays, enzyme tests, chromosome studies, and metabolic

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Research has been with the fetal tissue for several kinds of diseases to help find a

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Women have two X-chromosomes so that is why they will not have the disease. They have one defected gene and one normal. Their normal

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Although half of your chromosomes come from your mother and half from your father, your genetic pattern can be different from the patterns of either of your parents. Your genes determine who you are, for example they determine your

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Sotos Syndrome, Pediatric Sotos syndrome is a condition that causes a child to grow more quickly than other children. Children are born with this condition. Increased growth starts in the womb and may continue until the child is 4 years old. Your baby may be larger and heavier than other infants at birth and, during childhood, your child may be taller and heavier than other children. Many children with Sotos syndrome also have some delay in mental development.

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1. Similar to other diseases like, say, cancer, having family members who have it can increase your chance of getting it, though specific genes have been difficult to truly pin. 2. For those with Down syndrome, a gene contained in the extra chromosome increase the risk. 3.

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a. The majority of the people diagnosed with Down Syndrome have it because of a faulty cell division called nondisjunction i. Nondisjunction happens with one of the pairs of the chromosomes fail to separate, resulting in the three 21 chromosomes ii. Total number of chromosomes equals 47 b. According to …. 3-4% of Children with Down Syndrome get it through gene translocation i. Gene translocation happens during cell division. This happens when part of the chromosome 21 breaks off and attaches to another

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The risk to pass the defective gene and have affected child from two carrier parents is 25% with each pregnancy while the chance for having a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and

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This means that 1 in every 700 babies is born with Down syndrome (“Down Syndrome”). Parents of all ages have children with Down syndrome and the source of the extra chromosome can originate from the father or mother. However, it has been discovered that older women have a higher chance of having a baby with Down syndrome. At 35 years of age, a mother has a 1 in 350 chance of having a baby with Down syndrome.

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Klinefelter syndrome, also known as ‘47,XXY’ and ‘XXY’ is found in males, this is due to the fact that the host male gets another X chromosome. The image on the right you can see the extra chromosome with the pair of sex chromosomes. Usually there are only two chromosomes that determine the sex, one from opposite sexes but when it comes to Klinefelters Syndrome there is an extra X chromosome. Because this due to the additional chromosome it can described as a chromosome disorder.

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Most people avoid thinking of the idea of having one of their future children born with a genetic disorder. But this is not a realistic thought. A study made by the National Down Syndrome Society (2014) found out that about one in every seven hundred babies in the United States is born with Down syndrome, a chromosomal disorder caused by an error during the cell division. This results in an extra copy of the chromosome 21 which alters the brain and body development. People with Down syndrome are born with intellectual disability, some characteristic facial features and cognitive delays.

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In most cases of Down syndrome, a child gets an extra chromosome 21 for a total of 47 chromosomes instead of 46. (Susan Skallerup) Research said it is this extra genetic material that causes the physical appearance and developmental delays associated with DS. Today no one knows for sure why DS happens and there's no way to prevent the chromosomal error that causes it. Scientists do know that women age 35 and older have a extremely higher risk of having a child with the condition.

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