Aneuploidy

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  • Essay On Turner's Syndrome

    mosaicism, which is a mixture of at least two genetically different cell types. Mosaicism in Turner’s syndrome include 45,X/46,XX and 45,X/46,XY[5]. Most cases of turner’s syndrome whether nondisjunction or mosaicism are not inherited. They occur as random events during cell division as the fetus is developing. Monosomy X occurs at random during the formation of gametes in either parent. Nondisjunction occurs during cell division and it results in aneuploidy. Nondisjunction can occur in either meiosis I or meiosis II. If it occurs in meiosis II the chances of a zygote having aneuploidy is less because it results in 2 normal gametes, 1 trisomic gamete, and 1 monomeric gamete. If the mistake occurs in meiosis I it will result in 2 isomeric gametes and 2 monomeric gametes. Therefore, nondisjunction in meiosis I is more prone to having daughter cells with aneuploidy in comparison to nondisjunction in meiosis II. Some studies have shown that mothers who get pregnant at an older age have a higher chance of having children with aneuploidy, but this area needs more research. Turner’s syndrome is seen across all ethnicities and countries with about equal proportions. Though there is no cure for Turner’s syndrome, treatment of symptoms with the use of hormone therapy is available[5]. Biochemical/Molecular Genetic Info/Genotype/Phenotype/Expressivity/Pleiotropy Diagnosis of Turner’s syndrome prenatally can be done with the use of a sonogram and checking maternal serum beta human…

    Words: 2059 - Pages: 9
  • The Negative Effects Of Down Syndrome

    syndrome in honor of his discovery. Nearly a century later, geneticists Jerome Lejeune and Patricia Jacobs reported the chromosomal abnormality for the first time in humans to be secondary to a trisomy of chromosome 21 [1]. The reason that Down syndrome is still so common today is because there has been an increase in older women having babies. Maternal age is an important factor that plays into the possibility of a child being born with Down syndrome. More than half of the pregnancies with Down…

    Words: 2168 - Pages: 9
  • People Are Born Evil In Frankenstein, By Mary Shelley's Frankenstein

    There are billions of people in the world. They all start as small infants, then grow up. But not everyone turns out the same as the next. Some turn out to be truly evil beings. The truth is, many humans have done acts of evil, but no one is born evil. They are born like a blank slate, bound to be shaped by society. People believe others are either born to be corrupted or born to be kind. In this essay, to prove that people are born as a blank state and not either one of those we will show…

    Words: 1012 - Pages: 5
  • Characteristics Of Down Syndrome

    Background: What is Down Syndrome? Down Syndrome is a chromosomal disorder caused by an error in cell division that results in an extra twenty-first chromosome, that causes birth defects of developmental and intellectual delays. The human body is composed of trillions of cells and within the nucleus of each cell are structures called chromosomes (Parks, 2009). About eight million babies are diagnosed with Down Syndrome in the United States with approximately twenty thousand in Western Europe…

    Words: 1915 - Pages: 8
  • TS Case Study Essay

    the lowest grade of mosaicism (15%) (mos 45,X[15]/46,XX[85]) among the patients of the pilot TS group. Interestingly, in this population, the MLPA detected Y material presence in two patients (table 1). Applying this 0.76 cut-off in the “TS group”, MLPA did not miss any X aneuploidies or X structural abnormalities represented by X monosomy, mosaicisms 45 X0/46 XX and 45 X0/47 XXX, isochromosome X and deletion of X chromosome.…

    Words: 1360 - Pages: 6
  • Why I Chose To Study Biology

    people who were interested to learn it. I though I was get a feel for lab culture, but received anything but. The elegance of chromosomal segregation can and is appreciated, and credit is given where credit is due. There are places and times (such as post-natal) where determination of chromosomal segregation cannot be an option, but early detection of possible times that it might occur during meiosis is detrimental to figure out the possibility of aneuploidy in the foetus, allowing us to…

    Words: 814 - Pages: 4
  • Genetics Down Syndrome

    whose overexpression is ultimately responsible in part for the phenotype”. When they discovered that trisomy for chromosomes arms help show phenotypes, they decided to use partial trisomy to help navigate the diverse symptoms in an individual. This showed that the regions might contain the genes responsible for some of the many features of Down syndrome. This gave them the information to create a Down syndrome phenotypic map. When making these phenotype or physical maps of chromosome 21, we can…

    Words: 1457 - Pages: 6
  • Essay On Preimplantation Genetic Testing

    The dots can then be counted to identify the embryos that contain translocation or aneuploidy and only healthy embryos will be used (PGD). A disadvantage of using the FISH technique is that only 10 to 12 chromosomes can be analyzed at a time, while a human cell contains 46 chromosomes. This lessens the chances of transferring a healthy embryo to the mother’s womb, because some mutated chromosomes might not have been discovered (“PGD/PDS”). However, this technique would be useful for Huntington’s…

    Words: 1052 - Pages: 4
  • Nuchal Translucency Case Studies

    detecting fetus aneuploidy using NT thickness3. Furthermore, the measures of NT can inform the sonographers if there are any chromosomal defect which leads to sickness and deaths; fetuses that have more thickness of NT have more chance of increased mortality versus fetuses that have normal NT.4 The reason behind selecting the 11 – 13+6 days weeks gestation is related to the usage of an invasive diagnostic test like CVS (Chorionic Villus Sampling) which is associated with transverse limb…

    Words: 1277 - Pages: 5
  • Turner Syndrome Essay

    The person could have an extra chromosome (Klinefelter syndrome, Trisomy X, Down syndrome, etc.) or they lack a chromosome (Turner syndrome). Aneuploids are believed to be the result of some form of error that occurs during meiosis. This error generally causes a chromosome not to separate, which is called a nondisjunction. Gametes that have extra chromosomes unite with regular chromosome which results in a trisomy. A trisomy chromosome is one that, instead of being diploid, has three…

    Words: 1470 - Pages: 6
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